ClinVar Miner

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

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Gene type:
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Total variants: 13
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HGVS dbSNP
NM_000530.8(MPZ):c.129_136del (p.Ser44fs) rs760730366
NM_000530.8(MPZ):c.197G>A (p.Trp66Ter)
NM_000530.8(MPZ):c.1A>G (p.Met1Val)
NM_000530.8(MPZ):c.204C>A (p.Tyr68Ter)
NM_000530.8(MPZ):c.224A>T (p.Asp75Val) rs121913597
NM_000530.8(MPZ):c.256C>T (p.Gln86Ter) rs1553259703
NM_000530.8(MPZ):c.371C>T (p.Thr124Met) rs121913595
NM_000530.8(MPZ):c.434_437del (p.Tyr145fs) rs1553259643
NM_000530.8(MPZ):c.486del (p.Ile162fs)
NM_000530.8(MPZ):c.560del (p.Gln187fs)
NM_000530.8(MPZ):c.572_573AG[1] (p.Arg192fs)
NM_000530.8(MPZ):c.646-10_650del rs863225026
NM_000530.8(MPZ):c.68-5_71del

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