ClinVar Miner

List of variants in gene GJB2 reported as uncertain significance by GeneDx

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Total variants: 24
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HGVS dbSNP
NM_004004.6(GJB2):c.-22-2A>C rs201895089
NM_004004.6(GJB2):c.-7G>A rs398123813
NM_004004.6(GJB2):c.146C>T (p.Ala49Val) rs1057517976
NM_004004.6(GJB2):c.188T>C (p.Val63Ala) rs727504309
NM_004004.6(GJB2):c.194A>G (p.Tyr65Cys) rs111033203
NM_004004.6(GJB2):c.308A>G (p.Lys103Arg)
NM_004004.6(GJB2):c.331A>G (p.Ile111Val) rs1003660637
NM_004004.6(GJB2):c.355G>A (p.Glu119Lys) rs150529554
NM_004004.6(GJB2):c.380G>T (p.Arg127Leu) rs111033196
NM_004004.6(GJB2):c.385G>A (p.Glu129Lys) rs397516875
NM_004004.6(GJB2):c.410C>G (p.Thr137Arg)
NM_004004.6(GJB2):c.440A>G (p.Glu147Gly)
NM_004004.6(GJB2):c.475G>A (p.Asp159Asn) rs373684994
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750
NM_004004.6(GJB2):c.487A>G (p.Met163Val) rs80338949
NM_004004.6(GJB2):c.488T>C (p.Met163Thr) rs1273330603
NM_004004.6(GJB2):c.490C>G (p.Gln164Glu)
NM_004004.6(GJB2):c.499G>A (p.Val167Met) rs111033360
NM_004004.6(GJB2):c.503A>G (p.Lys168Arg) rs200104362
NM_004004.6(GJB2):c.560A>G (p.Glu187Gly) rs1451982228
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878
NM_004004.6(GJB2):c.663G>C (p.Lys221Asn) rs375599392
NM_004004.6(GJB2):c.670A>C (p.Lys224Gln) rs111033194
NM_004004.6(GJB2):c.73C>T (p.Leu25Phe) rs1555342006

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