List of variants in gene MPZ reported as likely 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: 15

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HGVS	dbSNP	gnomAD frequency
NC_000001.11:g.161305808_161309983dup
NM_000530.8(MPZ):c.101C>T (p.Thr34Ile)	rs1571820317
NM_000530.8(MPZ):c.178G>C (p.Asp60His)	rs121913604
NM_000530.8(MPZ):c.190_192del (p.Phe64del)	rs1571819975
NM_000530.8(MPZ):c.194C>A (p.Thr65Asn)	rs1571819964
NM_000530.8(MPZ):c.277G>A (p.Gly93Arg)	rs1553259691
NM_000530.8(MPZ):c.301T>C (p.Trp101Arg)	rs1060503423
NM_000530.8(MPZ):c.303G>T (p.Trp101Cys)	rs1558154149
NM_000530.8(MPZ):c.332C>T (p.Ser111Phe)	rs1553259663
NM_000530.8(MPZ):c.397C>A (p.Pro133Thr)	rs1553259648
NM_000530.8(MPZ):c.400G>A (p.Asp134Asn)	rs1553259647
NM_000530.8(MPZ):c.403A>T (p.Ile135Leu)	rs879253858
NM_000530.8(MPZ):c.449-2A>G	rs2102258343
NM_000530.8(MPZ):c.451C>A (p.Pro151Thr)	rs754068936
NM_000530.8(MPZ):c.585-2A>G

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