List of variants in gene MPZ reported as pathogenic for Charcot-Marie-Tooth disease type 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 28

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HGVS	dbSNP	gnomAD frequency
NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser)	rs121913603	0.00004
NM_000530.8(MPZ):c.292C>T (p.Arg98Cys)	rs121913590	0.00001
NM_000530.8(MPZ):c.293G>A (p.Arg98His)	rs121913589	0.00001
NM_000530.6(MPZ):c.[241C>T;337G>T]
NM_000530.8(MPZ):c.188C>T (p.Ser63Phe)	rs121913585
NM_000530.8(MPZ):c.188_190del (p.Ser63del)	rs879254109
NM_000530.8(MPZ):c.234+1G>A
NM_000530.8(MPZ):c.242A>G (p.His81Arg)	rs121913594
NM_000530.8(MPZ):c.270C>A (p.Asp90Glu)	rs121913584
NM_000530.8(MPZ):c.276G>A (p.Val92=)	rs1558154193
NM_000530.8(MPZ):c.286A>G (p.Lys96Glu)	rs121913583
NM_000530.8(MPZ):c.293G>C (p.Arg98Pro)	rs121913589
NM_000530.8(MPZ):c.308G>A (p.Gly103Glu)	rs121913600
NM_000530.8(MPZ):c.337G>T (p.Val113Phe)	rs281865126
NM_000530.8(MPZ):c.367G>A (p.Gly123Ser)	rs121913608
NM_000530.8(MPZ):c.371C>T (p.Thr124Met)	rs121913595
NM_000530.8(MPZ):c.389A>G (p.Lys130Arg)	rs281865127
NM_000530.8(MPZ):c.401A>T (p.Asp134Val)	rs1571818775
NM_000530.8(MPZ):c.403A>C (p.Ile135Leu)	rs879253858
NM_000530.8(MPZ):c.404T>C (p.Ile135Thr)	rs121913587
NM_000530.8(MPZ):c.409G>A (p.Gly137Ser)	rs121913588
NM_000530.8(MPZ):c.410G>A (p.Gly137Asp)	rs863225025
NM_000530.8(MPZ):c.499G>C (p.Gly167Arg)	rs121913586
NM_000530.8(MPZ):c.584+2T>G	rs879254054
NM_000530.8(MPZ):c.646-10_650del	rs863225026
NM_000530.8(MPZ):c.646-7_647delinsGCAGGAGAG	rs2102257349
NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr)	rs267607247
NP_000521.1(MPZ):p.Asn116Ser

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