ClinVar Miner

List of variants in gene GJB2 reported as uncertain significance by Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine

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Total variants: 22
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NC_000013.11:g.20192983G>C rs906180955
NM_004004.5(GJB2):c.-208G>T rs1555342246
NM_004004.6(GJB2):c.-127G>C rs727503068
NM_004004.6(GJB2):c.-30C>T rs397516867
NM_004004.6(GJB2):c.133G>A (p.Gly45Arg) rs1326514987
NM_004004.6(GJB2):c.188T>C (p.Val63Ala) rs727504309
NM_004004.6(GJB2):c.227T>C (p.Leu76Pro) rs111033361
NM_004004.6(GJB2):c.280C>T (p.His94Tyr) rs1593351383
NM_004004.6(GJB2):c.281A>T (p.His94Leu) rs397516872
NM_004004.6(GJB2):c.350A>G (p.Asp117Gly) rs111033441
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.445G>A (p.Ala149Thr) rs111033225
NM_004004.6(GJB2):c.470T>C (p.Met157Thr) rs727504789
NM_004004.6(GJB2):c.487A>G (p.Met163Val) rs80338949
NM_004004.6(GJB2):c.503A>G (p.Lys168Arg) rs200104362
NM_004004.6(GJB2):c.50C>G (p.Ser17Cys) rs28929485
NM_004004.6(GJB2):c.511G>A (p.Ala171Thr) rs201004645
NM_004004.6(GJB2):c.566C>A (p.Thr189Asn) rs199790409
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.677T>G (p.Val226Gly) rs773846324

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