ClinVar Miner

List of variants reported as likely pathogenic by Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center

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Total variants: 25
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HGVS dbSNP
GRCh37/hg19 10q11.22-11.23(chr10:47049547-51903662)x3
GRCh37/hg19 14q32.31-32.32(chr14:102423214-103518117)x1
GRCh37/hg19 15q11.2-13.1(chr15:23109890-29085893)x3
GRCh37/hg19 15q13.2-13.3(chr15:30369914-32620127)x1
GRCh37/hg19 15q13.2-13.3(chr15:30371774-32833659)x3
GRCh37/hg19 16p12.2(chr16:21769324-22435811)x1
GRCh37/hg19 16p12.2(chr16:21769324-22552780)x1
GRCh37/hg19 17p11.2-q11.2(chr17:21279289-27474974)x2
GRCh37/hg19 17p12(chr17:14101029-15449627)x1
GRCh37/hg19 17p13.2(chr17:3336162-4918458)x1
GRCh37/hg19 17p13.3(chr17:1068393-1560055)x3
GRCh37/hg19 17q11.2(chr17:29015932-30298437)x1
GRCh37/hg19 1q21.1-21.2(chr1:146501348-147843733)x1
GRCh37/hg19 22q11.21(chr22:19156117-19529130)x1
GRCh37/hg19 22q13.33(chr22:51024308-51243435)x1
GRCh37/hg19 2p11.2(chr2:86502663-87430727)x1
GRCh37/hg19 2p16.3(chr2:51147134-51184223)x1
GRCh37/hg19 3q12.2-13.13(chr3:100613996-108976446)x3
GRCh37/hg19 3q13.31(chr3:114422350-114464858)x1
GRCh37/hg19 6q27(chr6:169854753-170919470)x1
GRCh37/hg19 8q24.22-24.3(chr8:133621137-140433338)x1
GRCh37/hg19 Xp11.4(chrX:39952515-40238078)x1
GRCh37/hg19 Xp11.4(chrX:41690431-42036102)x2
GRCh37/hg19 Xq13.3(chrX:74016853-74178303)x0
GRCh37/hg19 Xq28(chrX:153184816-153626794)x3

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