ClinVar Miner

List of variants in gene PMP22 reported as likely pathogenic for Charcot-Marie-Tooth disease

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Total variants: 7
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HGVS dbSNP
NM_000304.4(PMP22):c.170C>G (p.Ser57Ter)
NM_000304.4(PMP22):c.199G>A (p.Ala67Thr) rs104894623
NM_000304.4(PMP22):c.255C>A (p.Cys85Ter)
NM_000304.4(PMP22):c.281dup (p.Arg95fs) rs80338763
NM_000304.4(PMP22):c.392C>G (p.Ser131Cys) rs1597597627
NM_000304.4(PMP22):c.420G>A (p.Trp140Ter) rs1597597527
NM_000304.4(PMP22):c.469C>T (p.Arg157Trp) rs28936682

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