ClinVar Miner

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

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Total variants: 6
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HGVS dbSNP
NM_000304.4(PMP22):c.138del (p.Ser47fs) rs864622180
NM_000304.4(PMP22):c.179-2A>G rs1597608225
NM_000304.4(PMP22):c.256C>T (p.Gln86Ter) rs11545341
NM_000304.4(PMP22):c.327C>A (p.Cys109Ter) rs863225028
NM_000304.4(PMP22):c.433del (p.Leu145fs) rs1567698872
NM_000304.4(PMP22):c.76del (p.Ser26fs) rs1597635540

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