ClinVar Miner

List of variants in gene GJB2 reported as uncertain significance for Nonsyndromic hearing loss and deafness

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Total variants: 17
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NM_004004.6(GJB2):c.-22-2A>C rs201895089
NM_004004.6(GJB2):c.107T>C (p.Leu36Pro) rs587783644
NM_004004.6(GJB2):c.232G>T (p.Ala78Ser)
NM_004004.6(GJB2):c.23C>T (p.Thr8Met) rs529500747
NM_004004.6(GJB2):c.24G>A (p.Thr8=) rs533231493
NM_004004.6(GJB2):c.29T>C (p.Leu10Pro)
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg) rs80338946
NM_004004.6(GJB2):c.385G>A (p.Glu129Lys) rs397516875
NM_004004.6(GJB2):c.487A>C (p.Met163Leu) rs80338949
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.503A>G (p.Lys168Arg) rs200104362
NM_004004.6(GJB2):c.569T>A (p.Val190Asp)
NM_004004.6(GJB2):c.653G>A (p.Cys218Tyr) rs752812448
NM_004004.6(GJB2):c.674C>T (p.Pro225Leu) rs1555341782
NM_004004.6(GJB2):c.677T>A (p.Val226Asp) rs773846324
NM_004004.6(GJB2):c.677T>G (p.Val226Gly) rs773846324

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