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: 20
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HGVS dbSNP
NM_000530.8(MPZ):c.129_136del (p.Ser44fs) rs760730366
NM_000530.8(MPZ):c.131C>T (p.Ser44Phe) rs121913598
NM_000530.8(MPZ):c.197G>A (p.Trp66Ter) rs1571819946
NM_000530.8(MPZ):c.198_199GC[1] (p.Arg67fs)
NM_000530.8(MPZ):c.1A>G (p.Met1Val) rs1427063795
NM_000530.8(MPZ):c.204C>A (p.Tyr68Ter) rs1571819906
NM_000530.8(MPZ):c.224A>T (p.Asp75Val) rs121913597
NM_000530.8(MPZ):c.233C>T (p.Ser78Leu) rs121913601
NM_000530.8(MPZ):c.245A>G (p.Tyr82Cys) rs1553259707
NM_000530.8(MPZ):c.256C>T (p.Gln86Ter) rs1553259703
NM_000530.8(MPZ):c.293G>A (p.Arg98His) rs121913589
NM_000530.8(MPZ):c.296T>C (p.Ile99Thr) rs1571819182
NM_000530.8(MPZ):c.303G>A (p.Trp101Ter) rs1558154149
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) rs1571818248
NM_000530.8(MPZ):c.560del (p.Gln187fs) rs1571817966
NM_000530.8(MPZ):c.572_573AG[1] (p.Arg192fs) rs1571817911
NM_000530.8(MPZ):c.646-10_650del rs863225026
NM_000530.8(MPZ):c.68-5_71del rs1571820401

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