ClinVar Miner

List of variants reported as likely pathogenic for X-linked disease by Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego

Included ClinVar conditions (274):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000033.4(ABCD1):c.1903G>A (p.Val635Met)
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln) rs1060501002
NM_000489.6(ATRX):c.5048A>G (p.Tyr1683Cys) rs1602979414
NM_001008537.3(NEXMIF):c.3395_3398del (p.Asn1132fs) rs2147439499
NM_001039591.3(USP9X):c.3559-1G>C rs2147163808
NM_001079872.2(CUL4B):c.1786C>T (p.Arg596Cys) rs1556200641
NM_031407.7(HUWE1):c.344C>T (p.Ser115Phe) rs1557036757
NM_153252.5(BRWD3):c.4006-1G>A
NM_203475.3(PORCN):c.1356del (p.Cys453fs) rs1602085557

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