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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

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+ Genes 10

+ Genes associated with diseases 8

Genes at Omim

CACNA1S, CLCNKB, CPS1, DMPK, ISCU, LARS, PEX6, RARS,
CACNA1S {Malignant hyperthermia susceptibility 5}, 601887 (3)
Hypokalemic periodic paralysis, type 1, 170400 (3)
{Thyrotoxic periodic paralysis, susceptibility to, 1}, 188580 (3)
CLCNKB Bartter syndrome, type 3, 607364 (3)
Bartter syndrome, type 4b, digenic, 613090 (3)
CPS1 Carbamoylphosphate synthetase I deficiency, 237300 (3)
{Pulmonary hypertension, neonatal, susceptibility to}, 615371 (3)
{Venoocclusive disease after bone marrow transplantation} (3)
DMPK Myotonic dystrophy 1, 160900 (3)
ISCU Myopathy with lactic acidosis, hereditary, 255125 (3)
LARS ?Infantile liver failure syndrome 1, 615438 (3)
PEX6 Heimler syndrome 2, 616617 (3)
Peroxisome biogenesis disorder 4A (Zellweger), 614862 (3)
Peroxisome biogenesis disorder 4B, 614863 (3)
RARS Leukodystrophy, hypomyelinating, 9, 616140 (3)

Genes at Clinical Genomics Database

CACNA1S, CLCNKB, CPS1, DMPK, ISCU, LARS, PEX6, RARS,
CACNA1S Malignant hyperthermia susceptibility 5
Thyrotoxic period paralysis, susceptibility 1
Hypokalemic periodic paralysis, type 1
CLCNKB Bartter syndrome, type 4, digenic
Bartter syndrome, type 3
CPS1 Carbamoylphosphate synthetase I deficiency
DMPK Myotonic dystrophy 1
ISCU Myopathy with lactic acidosis, hereditary
LARS Infantile liver failure syndrome 1
PEX6 Heimler syndrome 2
RARS Leukodystrophy, hypomyelinating 9

Genes at HGMD

Summary

Number of Variants: 84
Number of Genes: 10

Export to: CSV
  • Page 1 of 1

CACNA1S
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 trf_44289 1 . 201052310 1306.36 AGA TGC PASS 0/1 100 NON_SYNONYMOUS_CODING MODERATE None -100.00 None None . . . None CACNA1S|0.323841456|25.88%

CLCNKB
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 trf_44289 1 . 16375063 266.83 CA GC PASS 1/1 10 NON_SYNONYMOUS_CODING MODERATE None 0.79 0.00 -100.00 None None . . . None CLCNKB|0.024900854|71.85%

CPS1
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 trf_44289 2 . 211456637 1909.08 ACC GCT PASS 1/1 63 NON_SYNONYMOUS_CODING MODERATE None 0.08 0.00 -100.00 None None . . . None CPS1|0.827402852|5.16%

DMPK
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 trf_44289 19 . 46278247 808.54 G T PASS 0/1 73 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.97 4.01 None None . . . None DMPK|0.106803159|49.83%

ISCU
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 trf_44289 12 . 108956417 1346.98 TT GG PASS 1/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.33 0.00 -100.00 None None . . . None ISCU|0.222032227|34.21%

LARS
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 trf_44289 5 . 145508636 540.6 TA CC PASS 0/1 56 NON_SYNONYMOUS_CODING MODERATE None -100.00 None None . . . None LARS|0.88780844|3.76%

NDUFC2
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 trf_44289 11 . 77790653 325.06 TAG CAC PASS ./1 15 SYNONYMOUS_CODING LOW None 0.84205 0.84210 0.12496 None None None None None None NDUFC2-KCTD14|0.020652604|73.87%,NDUFC2|0.028863615|69.96%

OXA1L
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 trf_44289 14 . 23237210 257.57 C A PASS 0/1 24 NON_SYNONYMOUS_CODING MODERATE None 0.26 0.31 -0.63 None None . . . None OXA1L|0.120087489|47.42%

PEX6
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 trf_44289 6 . 42932200 2096.73 GGC TGT PASS 1/1 67 NON_SYNONYMOUS_CODING MODERATE None -100.00 None None . . . None PEX6|0.097337007|51.65%

RARS
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 trf_44289 5 . 167933156 313.18 ATT GTA PASS 0/1 32 NON_SYNONYMOUS_CODING MODERATE None None None None None None None RARS|0.932338874|2.73%
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 trf_44289 1 . 33476385 334.58 CGC GGT PASS 0/1 83 None None None None None None None None None AK2|0.52008847|15.01%
View trf_44289 1 . 147131322 60.32 GA TT PASS 0/1 14 None None None None None None None None None ACP6|0.053267553|61.72%
View trf_44289 1 . 227173959 177.66 C T PASS 0/1 22 None None None None None None None None None ADCK3|0.102470418|50.69%
View trf_44289 1 . 237752866 83.91 CTT TTC PASS 0/1 9 None None None None None None None None None RYR2|0.544008282|14.03%
View trf_44289 1 . 237753012 372.6 T A PASS 0/1 50 None None None None None None None None None RYR2|0.544008282|14.03%
View trf_44289 1 . 237765675 16.13 GC CT PASS 0/1 4 None None None None None None None None None RYR2|0.544008282|14.03%
View trf_44289 1 . 246714631 339.36 TG AA PASS 1/1 11 None None None None None None None None None TFB2M|0.00516186|85.63%
View trf_44289 2 . 37468437 21.61 C T PASS 0/1 3 None None None None None None None None None NDUFAF7|0.125697544|46.54%
View trf_44289 2 . 50280973 249.44 GTA ATG PASS 1/1 9 None None None None None None None None None NRXN1|0.995179441|0.81%
View trf_44289 2 . 55898929 278.7 AC GT PASS 1/1 10 None None None None None None None None None PNPT1|0.558873|13.4%
View trf_44289 2 . 70524368 331.93 CT TC PASS 0/1 77 None None None None None None None None None FAM136A|0.019073327|74.63%
View trf_44289 3 . 125850101 29.98 CA TG PASS 0/1 7 None None None None None None None None None ALDH1L1|0.039465558|65.93%
View trf_44289 3 . 100092528 542.2 T GTGCA PASS 1/1 19 None None None None None None None None None TOMM70A|0.748170689|7.13%
View trf_44289 3 . 184071017 1854.63 GTT ATC PASS 0/1 131 None None None None None None None None None EIF2B5|0.736636231|7.47%,CLCN2|0.338481257|24.94%
View trf_44289 3 . 193375265 30.95 T C PASS 0/1 3 None None None None None None None None None OPA1|0.756692356|6.94%
View trf_44289 4 . 17488533 500.5 CA TG PASS 0/1 48 None None None None None None None None None QDPR|0.351040416|24.03%
View trf_44289 5 . 1801426 414.47 GC CCG PASS 1/1 15 None None None None None None None None None MRPL36|0.002012562|90.97%
View trf_44289 5 . 65083756 78.6 A T PASS 0/1 5 None None None None None None None None None NLN|0.686293062|8.93%
View trf_44289 6 . 74183462 39.11 G T PASS 0/1 22 None None None None None None None None None MTO1|0.179068486|39.12%
View trf_44289 6 . 143771905 0.04 G A PASS 0/1 15 None None None None None None None None None None
View trf_44289 7 . 95800909 69.88 G T PASS 0/1 10 None None None None None None None None None SLC25A13|0.335449834|25.1%
View trf_44289 7 . 101259388 63.64 GC G PASS 0/1 11 None None None None None None None None None MYL10|0.030543587|69.14%
View trf_44289 7 . 150647969 503.91 CC TG PASS 0/1 66 None None None None None None None None None KCNH2|0.688011457|8.87%
View trf_44289 8 . 143994980 1385.33 AAA CG PASS 1/1 48 None None None None None None None None None GML|0.000127964|99.9%,CYP11B2|0.013075672|78.46%
View trf_44289 8 . 143994981 2553.0 AA CG PASS 1/1 0 None None None None None None None None None GML|0.000127964|99.9%,CYP11B2|0.013075672|78.46%
View trf_44289 8 . 144391924 51.7 CT TC PASS 0/1 11 None None None None None None None None None TOP1MT|0.006768719|83.74%
View trf_44289 8 . 144399885 26.0 AG CT PASS 0/1 8 None None None None None None None None None TOP1MT|0.006768719|83.74%
View trf_44289 8 . 145151666 447.72 GG... C PASS 1/1 15 None None None None None None None None None CYC1|0.107950243|49.59%
View trf_44289 9 . 136570004 260.15 GT AC PASS ./1 11 None None None None None None None None None SARDH|0.055038461|61.17%
View trf_44289 10 . 11789290 184.85 GG CA PASS ./1 9 None None None 0.92232 0.92230 None None None None None None ECHDC3|0.029496468|69.61%
View trf_44289 10 . 28233931 2308.12 GCA ACG PASS 1/1 76 None None None None None None None None None ARMC4|0.02617115|71.23%
View trf_44289 10 . 72648083 115.99 TCGA GTGG PASS ./1 6 None None None None None None None None None PCBD1|0.62411325|11%
View trf_44289 11 . 34982146 84.63 TTC GTA PASS 0/1 29 None None None None None None None None None PDHX|0.779810523|6.33%
View trf_44289 11 . 68566649 2161.91 AAA CGCT PASS 1/1 70 None None None None None None None None None CPT1A|0.081912568|54.76%
View trf_44289 11 . 68566649 2937.0 AAA GCT PASS 1/1 0 None None None None None None None None None CPT1A|0.081912568|54.76%
View trf_44289 11 . 118896115 40.78 AA GC PASS 0/1 5 None None None None None None None None None TRAPPC4|0.703226976|8.41%,SLC37A4|0.255014905|31.13%
View trf_44289 12 . 21693243 302.35 AT TA PASS 0/1 33 None None None None None None None None None GYS2|0.162605714|41.21%
View trf_44289 12 . 104190854 30.1 CA TG PASS 0/1 15 None None None None None None None None None NT5DC3|0.098618908|51.45%
View trf_44289 12 . 109644404 2668.0 TCCTC ACCTA PASS 1/0 0 None None None None None None None None None ACACB|0.108212697|49.54%
View trf_44289 12 . 109644404 477.2 T GA PASS 0/1 39 None None None None None None None None None ACACB|0.108212697|49.54%
View trf_44289 14 . 74417379 204.69 T G PASS 0/1 17 None None None None None None None None None COQ6|0.155475963|42.22%
View trf_44289 14 . 105258892 1992.03 CA TG PASS ./1 75 None None None None None None None None None AKT1|0.999993361|0.05%
View trf_44289 15 . 75182348 30.46 G A PASS 0/1 10 None None None None None None None None None MPI|0.104038898|50.39%
View trf_44289 16 . 48151376 12.84 C T PASS 0/1 6 None None None None None None None None None ABCC12|0.070949421|57.23%
View trf_44289 16 . 70187563 86.92 G A PASS 0/1 17 None None None None None None None None None PDPR|0.230085015|33.36%
View trf_44289 17 . 686794 16.11 G A PASS 0/1 4 None None None None None None None None None RNMTL1|0.073757286|56.57%
View trf_44289 17 . 8194318 2153.36 GT AC PASS 1/1 68 None None None None None None None None None SLC25A35|0.171337393|40.13%
View trf_44289 17 . 62043262 52.2 T A PASS 1/1 2 None None None None None None None None None SCN4A|0.296782735|27.91%
View trf_44289 17 . 73258086 806.35 GC CG PASS ./1 35 None None None 0.82947 0.82950 None None None None None None GGA3|0.125773495|46.52%,MRPS7|0.30443526|27.34%
View trf_44289 17 . 78084941 255.27 CG T PASS 1/1 12 None None None None None None None None None GAA|0.017886334|75.35%
View trf_44289 18 . 71930904 196.24 TA CG PASS 1/1 7 None None None None None None None None None CYB5A|0.075036645|56.3%
View trf_44289 19 . 7119651 184.19 G ACACA PASS 0/1 52 None None None 0.05611 0.05611 None None None None None None INSR|0.981323022|1.43%
View trf_44289 19 . 17450445 75.23 GG CA PASS ./1 4 None None None None None None None None None GTPBP3|0.023898471|72.25%
View trf_44289 19 . 47549155 107.7 AT GC PASS 0/1 26 None None None None None None None None None None
View trf_44289 19 . 50195770 74.42 TT CG PASS 0/1 18 None None None None None None None None None CPT1C|0.017896293|75.34%
View trf_44289 19 . 55574429 420.41 A AG... PASS ./1 18 None None None 0.84984 0.28508 None None None None None None RDH13|0.016104843|76.42%
View trf_44289 20 . 17968486 3.14 A C PASS 0/1 6 None None None None None None None None None OVOL2|0.091587792|52.91%,MGME1|0.050093217|62.64%
View trf_44289 22 . 21330354 112.08 G A PASS 0/1 10 None None None None None None None None None AIFM3|0.183569407|38.59%
View trf_44289 22 . 31019235 1060.54 A CC PASS 1/1 41 None None None 0.28834 0.28830 None None None None None None TCN2|0.038200441|66.38%
View trf_44289 22 . 32019562 76.45 G A PASS 1/1 3 None None None None None None None None None PISD|0.222940647|34.07%
View trf_44289 22 . 42526561 726.61 GG TC PASS 1/1 24 None None None None None None None None None CYP2D6|0.040319287|65.66%
View trf_44289 22 . 42526567 792.85 G A PASS 1/1 26 None None None 0.69269 0.07256 None None None None None None CYP2D6|0.040319287|65.66%
View trf_44289 22 . 42526571 754.43 CAT GAG PASS 1/1 25 None None None None None None None None None CYP2D6|0.040319287|65.66%
View trf_44289 3 . 121644029 66.55 GC TT PASS 0/1 8 None None None None None None None None None SLC15A2|0.130031628|45.86%
View trf_44289 X . 77373419 12.37 T G PASS 0/1 5 None None None None None None None None None PGK1|0.940776519|2.46%
View trf_44289 10 . 99361566 4.95 C A PASS 0/1 7 None None None None None None None None None HOGA1|0.206118474|36.01%,PI4K2A|0.347953253|24.29%
View trf_44289 10 . 113926415 146.8 TAA CAT PASS 0/1 28 None None None None None None None None None GPAM|0.215163179|34.97%
View trf_44289 18 . 43670051 0.15 T G PASS 0/1 17 None None None None None None None None None ATP5A1|0.559577689|13.38%
View trf_44289 20 . 61982483 131.23 AT GC PASS 0/1 7 None None None None None None None None None CHRNA4|0.164276334|40.99%
View trf_44289 22 . 46752192 48.9 T C PASS 0/1 4 None None None None None None None None None TRMU|0.046992702|63.58%
View trf_44289 22 . 47083010 1675.31 TGT CGA PASS 1/1 50 None None None None None None None None None CERK|0.015511577|76.79%
View trf_44289 18 . 12360211 144.65 A G PASS 0/1 18 None None None None None None None None None AFG3L2|0.258891122|30.83%
View trf_44289 1 . 6355065 363.83 GA CG PASS 0/1 46 None None None None None None None None None ACOT7|0.198258082|36.89%
View trf_44289 1 . 16383336 129.42 G CC PASS 1/1 8 None None None None None None None None None CLCNKB|0.024900854|71.85%
  • Page 1 of 1