ClinVar Miner

List of variants in gene GJB1 reported as pathogenic for Charcot-Marie-Tooth disease

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Total variants: 16
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NM_000166.6(GJB1):c.-103C>T rs863224971
NM_000166.6(GJB1):c.187G>A (p.Val63Ile) rs116840818
NM_000166.6(GJB1):c.224G>A (p.Arg75Gln) rs863224972
NM_000166.6(GJB1):c.381C>G (p.Ile127Met) rs1602349264
NM_000166.6(GJB1):c.43C>T (p.Arg15Trp) rs116840815
NM_000166.6(GJB1):c.576del (p.Phe193fs) rs1602349692
NM_000166.6(GJB1):c.629_632del (p.Val210fs) rs1602349779
NM_000166.6(GJB1):c.64C>T (p.Arg22Ter) rs1555937020
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln) rs1060501002
NM_000166.6(GJB1):c.688C>T (p.Arg230Cys) rs587781246
NM_000166.6(GJB1):c.772del (p.Ser258fs) rs1602349940
NM_000166.6(GJB1):c.785_786del (p.Ile262fs) rs1602349962
NM_000166.6(GJB1):c.800del (p.Pro267fs) rs1602350003
NM_000166.6(GJB1):c.822del (p.Glu275fs) rs1602350029
NM_000166.6(GJB1):c.844dup (p.Ala282fs) rs1602350062
NM_000166.6(GJB1):c.8G>C (p.Trp3Ser) rs1555936989

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