ClinVar Miner

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

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Gene type:
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Total variants: 9
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HGVS dbSNP
NM_000530.8(MPZ):c.103G>T (p.Asp35Tyr) rs121913596
NM_000530.8(MPZ):c.188C>T (p.Ser63Phe) rs121913585
NM_000530.8(MPZ):c.314C>T (p.Pro105Leu) rs786204215
NM_000530.8(MPZ):c.418T>A (p.Ser140Thr) rs572010627
NM_000530.8(MPZ):c.434A>G (p.Tyr145Cys) rs121913603
NM_000530.8(MPZ):c.435T>A (p.Tyr145Ter) rs1571818632
NM_000530.8(MPZ):c.448+2T>G
NM_000530.8(MPZ):c.549G>A (p.Trp183Ter)
NM_000530.8(MPZ):c.703_705AAG[1] (p.Lys236del) rs755446743

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