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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
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EXCLUDE ALL VARIANTS PRESENT IN DBSNP
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EXCLUDE VARIANTS WITHOUT SIFT SCORE
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EXCLUDE VARIANTS WITHOUT M-CAP SCORE
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Genes at Omim

CD207, CREB3L1, CYFIP2, EMG1, NPRL3, OPLAH, PRKDC, RECQL4, SLC37A4, SLC46A1,
CD207 [?Birbeck granule deficiency], 613393 (3)
CREB3L1 Osteogenesis imperfecta, type XVI, 616229 (3)
CYFIP2 Epileptic encephalopathy, early infantile, 65, 618008 (3)
EMG1 Bowen-Conradi syndrome, 211180 (3)
NPRL3 Epilepsy, familial focal, with variable foci 3, 617118 (3)
OPLAH 5-oxoprolinase deficiency, 260005 (3)
PRKDC Immunodeficiency 26, with or without neurologic abnormalities, 615966 (3)
RECQL4 Baller-Gerold syndrome, 218600 (3)
RAPADILINO syndrome, 266280 (3)
Rothmund-Thomson syndrome, 268400 (3)
SLC37A4 Glycogen storage disease Ib, 232220 (3)
Glycogen storage disease Ic, 232240 (3)
SLC46A1 Folate malabsorption, hereditary, 229050 (3)

Genes at Clinical Genomics Database

CD207, CREB3L1, EMG1, OPLAH, PRKDC, RECQL4, SLC37A4, SLC46A1,
CD207 Birbeck granule deficiency
CREB3L1 Osteogenesis imperfecta, type XVI
EMG1 Bowen-Conradi syndrome
OPLAH 5-oxoprolinase deficiency
PRKDC Immunodeficiency 26 with or without neurologic abnormalities
RECQL4 Baller-Gerold syndrome
RAPADILINO syndrome
Rothmund-Thomson syndrome
SLC37A4 Glycogen storage disease Ib
Glycogen storage disease Ic
Glycogen storage disease Id
SLC46A1 Folate malabsorption, hereditary

Genes at HGMD

Summary

Number of Variants: 39
Number of Genes: 35

Export to: CSV
  • Page 1 of 1

ALDH3B1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mp91583 both 11 rs11436139,rs58238184
dbSNP Clinvar
67795378 2891.73 G GC . 1/1 75 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.99980 0.99980 0.00424 None None None None None None ALDH3B1|0.033093329|68.12%
View mp91583 both 11 rs58160034,rs397695802
dbSNP Clinvar
67789293 4793.73 G GC . 1/1 117 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.00280 0.99720 0.00024 None None None None None None ALDH3B1|0.033093329|68.12%

CD207

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mp91583 both 2 rs11450450,rs397692276
dbSNP Clinvar
71062833 3357.73 G GC . 1/1 81 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00025 None None None None None None CD207|0.004253024|86.68%

CLTCL1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mp91583 both 22 rs11386977
dbSNP Clinvar
19189003 2466.73 A AC . 1/1 61 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.99980 0.99980 0.00051 None None None None None None CLTCL1|0.022666116|72.86%

CREB3L1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mp91583 both 11 rs79068197,rs386373762
dbSNP Clinvar
46342259 1947.73 A AG . 1/1 51 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.99980 0.99980 0.00042 None None None None None None CREB3L1|0.229770101|33.39%

CTD-3193O13.9

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mp91583 both 19 rs58971992
dbSNP Clinvar
7938306 4090.73 A AG . 1/1 106 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.99960 0.99960 None None None None None None None

CYFIP2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mp91583 both 5 rs5872508,rs397781034,rs397712438
dbSNP Clinvar
156721863 3366.73 T TC . 1/1 92 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00203 None None None None None None CYFIP2|0.509393402|15.41%

CYP4B1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mp91583 both 1 rs3215983
dbSNP Clinvar
47280746 939.73 GAT G . 0/1 49 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.13538 0.13540 0.11430 None None None None None None CYP4B1|0.038794091|66.17%

DIXDC1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mp91583 both 11 rs11455434,rs376922505
dbSNP Clinvar
111853106 2036.73 G GC . 1/1 52 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00009 None None None None None None DIXDC1|0.324696755|25.81%

EI24

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mp91583 both 11 rs55912941,rs397812741
dbSNP Clinvar
125452300 1342.73 A AC . 1/1 36 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.99980 0.99980 0.00194 None None None None None None EI24|0.31494271|26.44%

EMG1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mp91583 both 12 rs11428482
dbSNP Clinvar
7080212 2488.73 T TC . 1/1 63 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00052 None None None None None None EMG1|0.122491052|47.03%
View mp91583 both 12 rs17857448
dbSNP Clinvar
7080212 1615.29 T C,G . 1/2 63 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00052 None None None None None None EMG1|0.122491052|47.03%

FAM228B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mp91583 both 2 rs113322110,rs397822939
dbSNP Clinvar
24387178 514.73 G GC . 1/1 13 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.96206 0.96210 0.03057 None None None None None None FAM228B|0.030483261|69.18%

KRBA1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mp91583 both 7 rs11424737
dbSNP Clinvar
149426305 1742.73 G GC . 1/1 46 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00112 None None None None None None KRBA1|0.003479568|87.8%

MAL2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mp91583 both 8 rs71302978,rs398009582
dbSNP Clinvar
120220775 1137.73 CG C . 1/1 31 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00577 None None None None None None MAL2|0.092693301|52.68%

MAPK8IP2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mp91583 both 22 rs140511
dbSNP Clinvar
51042513 3894.73 C CG . 1/1 90 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00725 None None None None None None MAPK8IP2|0.058785144|60.2%

NEK3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mp91583 both 13 rs3837575,rs72514762,rs397805362
dbSNP Clinvar
52718050 1710.73 C CT . 1/1 53 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.48802 0.48800 0.47178 None None None None None None NEK3|0.085070431|54.18%

NPRL3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mp91583 both 16 rs57321480
dbSNP Clinvar
138772 2114.73 A AG . 1/1 51 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00016 None None None None None None NPRL3|0.194653902|37.31%

NUDT18

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mp91583 both 8 rs58343576,rs796630966
dbSNP Clinvar
21966707 1217.73 CG C . 1/1 32 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00076 None None None None None None NUDT18|0.065277959|58.56%

OPLAH

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mp91583 both 8 rs60949781,rs796594277
dbSNP Clinvar
145106938 3117.73 GCC G . 1/1 69 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00209 None None None None None None OPLAH|0.085381041|54.08%

PCSK6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mp91583 both 15 rs199543153
dbSNP Clinvar
102029685 1593.73 G GGC . 1/1 36 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.99301 0.99300 0.02314 None None None None None None PCSK6|0.167215147|40.63%

PIK3R6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mp91583 both 17 rs56322041,rs869211942,rs397775164
dbSNP Clinvar
8725214 3320.73 A AG . 1/1 87 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.99960 0.99960 0.00119 None None None None None None PIK3R6|0.019330881|74.51%

PLCD3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mp91583 both 17 rs35911033
dbSNP Clinvar
43192549 1658.73 T TC . 1/1 40 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.99980 0.99980 0.00167 None None None None None None PLCD3|0.055013551|61.18%

PLEKHA2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mp91583 both 8 rs5891050,rs398007544
dbSNP Clinvar
38827185 1744.73 GC G . 1/1 44 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00009 None None None None None None PLEKHA2|0.247298578|31.8%

POLDIP2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mp91583 both 17 rs11448856,rs67934205
dbSNP Clinvar
26684390 590.73 G GC . 1/1 17 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.01501 None None None None None None POLDIP2|0.380366817|22.01%

PPP1R9B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mp91583 both 17 rs10669850
dbSNP Clinvar
48227384 2751.73 G GGC . 1/1 55 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.02798 None None None None None None PPP1R9B|0.085244344|54.11%
View mp91583 both 17 rs10669851
dbSNP Clinvar
48227403 2591.73 G GGC . 1/1 49 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.01407 None None None None None None PPP1R9B|0.085244344|54.11%

PRB3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mp91583 both 12 rs3842295
dbSNP Clinvar
11420333 7755.73 AG A . 1/1 199 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.82408 0.82410 0.10774 None None None None None None PRB3|0.000537603|98.24%

PRKDC

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mp91583 both 8 rs11411516,rs397814002
dbSNP Clinvar
48805816 2984.73 A AG . 1/1 75 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00078 None None None None None None PRKDC|0.642781418|10.36%

RECQL4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mp91583 both 8 rs11342077,rs398010167
dbSNP Clinvar
145738767 3164.73 CG C . 1/1 76 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 None None None None None None RECQL4|0.005456729|85.27%

SCAMP1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mp91583 both 5 rs66744502
dbSNP Clinvar
77745853 1433.73 C CA . 1/1 35 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00071 None None None None None None SCAMP1|0.364956416|23.1%

SENP3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mp91583 both 17 rs58837213,rs398030265
dbSNP Clinvar
7470285 1892.73 CA C . 1/1 49 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None None None None None None None SENP3|0.655758186|9.88%

SLC37A4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mp91583 both 11 rs56966114,rs547203028
dbSNP Clinvar
118898435 4832.73 AC A . 1/1 119 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 None None None None None None SLC37A4|0.255014905|31.13%

SLC46A1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mp91583 both 17 rs5819844,rs561780114
dbSNP Clinvar
26727721 1405.73 GA G . 1/1 34 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00033 None None None None None None SARM1|0.349245398|24.19%,SLC46A1|0.07823181|55.6%

TEX13A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mp91583 both X rs868974583,rs56000396,rs375033944
dbSNP Clinvar
104464276 2678.73 CA C . 1/1 69 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 None None None None None None IL1RAPL2|0.874064576|4.12%,TEX13A|0.000986608|95.53%
View mp91583 both X rs56118606,rs367644904
dbSNP Clinvar
104464281 2474.73 TC T . 1/1 69 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None None None None None None None IL1RAPL2|0.874064576|4.12%,TEX13A|0.000986608|95.53%

TRAJ36

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mp91583 both 14 rs11324184,rs796246799
dbSNP Clinvar
22974150 1965.73 TC T . 1/1 57 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 None None None None None None None

VSIG10L

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mp91583 both 19 rs11402251,rs397723022
dbSNP Clinvar
51835892 3354.73 T TG . 1/1 85 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00207 None None None None None None VSIG10L|0.003923546|87.15%

ZNF598

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mp91583 both 16 rs11366527
dbSNP Clinvar
2059621 1136.73 GC G . 1/1 31 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00146 None None None None None None ZNF598|0.018327605|75.06%
  • Page 1 of 1