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 CHR:

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VARIANT EFFECT FUNCTIONAL CLASS IMPACT
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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

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+ Genes 5

Genes:
CD207, CYFIP2, FAM228B, RYK, SCAMP1,

+ Genes associated with diseases 2

Genes at Omim

CD207, CYFIP2,
CD207 [?Birbeck granule deficiency], 613393 (3)
CYFIP2 Epileptic encephalopathy, early infantile, 65, 618008 (3)

Genes at Clinical Genomics Database

CD207,
CD207 Birbeck granule deficiency

Genes at HGMD

Summary

Number of Variants: 5
Number of Genes: 5

Export to: CSV
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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 mm180112f 2 rs11450450,rs397692276
dbSNP Clinvar 		71062833 6880.73 G GC . 1/1 163 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00025 None None None None None None CD207|0.004253024|86.68%

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 mm180112f 5 rs5872508,rs397781034,rs397712438
dbSNP Clinvar 		156721863 8114.73 T TC . 1/1 212 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00203 None None None None None None CYFIP2|0.509393402|15.41%

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 mm180112f 2 rs113322110,rs397822939
dbSNP Clinvar 		24387178 1744.73 G GC . 1/1 42 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.96206 0.96210 0.03057 None None None None None None FAM228B|0.030483261|69.18%

RYK
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 mm180112f 3 rs587770426
dbSNP Clinvar 		133969437 895.73 A AG . 1/1 23 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.99820 0.99820 0.01351 None None None None None None RYK|0.678647218|9.13%

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 mm180112f 5 rs66744502
dbSNP Clinvar 		77745853 1870.73 C CA . 1/1 47 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00071 None None None None None None SCAMP1|0.364956416|23.1%
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