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

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Gene type:		Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 14

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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.301T>C (p.Trp101Arg)	rs1060503423
NM_000530.8(MPZ):c.314C>T (p.Pro105Leu)	rs786204215
NM_000530.8(MPZ):c.397C>A (p.Pro133Thr)	rs1553259648
NM_000530.8(MPZ):c.398C>T (p.Pro133Leu)	rs1558154010
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.451C>A (p.Pro151Thr)	rs754068936
NM_000530.8(MPZ):c.549G>A (p.Trp183Ter)
NM_000530.8(MPZ):c.703_705AAG[1] (p.Lys236del)	rs755446743
Single allele

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