ClinVar Miner

List of variants in gene GJB2 reported as pathogenic by Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals

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Total variants: 5
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NM_004004.6(GJB2):c.148G>A (p.Asp50Asn) rs28931594
NM_004004.6(GJB2):c.257C>G (p.Thr86Arg) rs1291519904
NM_004004.6(GJB2):c.298C>T (p.His100Tyr) rs143343083
NM_004004.6(GJB2):c.59T>C (p.Ile20Thr) rs1057517519
NM_004004.6(GJB2):c.95G>A (p.Arg32His) rs111033190

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