List of variants in gene MPZ reported as pathogenic for Charcot-Marie-Tooth disease type 2J

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: 10

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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.313C>A (p.Pro105Thr)	rs121913609	0.00001
NM_000530.8(MPZ):c.224A>T (p.Asp75Val)	rs121913597
NM_000530.8(MPZ):c.242A>G (p.His81Arg)	rs121913594
NM_000530.8(MPZ):c.290A>T (p.Glu97Val)	rs121913606
NM_000530.8(MPZ):c.304del (p.Trp101_Val102insTer)
NM_000530.8(MPZ):c.30del (p.Ser11fs)
NM_000530.8(MPZ):c.371C>T (p.Thr124Met)	rs121913595
NM_000530.8(MPZ):c.421C>T (p.Gln141Ter)	rs1456458087
NM_000530.8(MPZ):c.499G>C (p.Gly167Arg)	rs121913586

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