List of variants in gene MPZ studied 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
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_000530.8(MPZ):c.133C>T (p.Arg45Trp)	rs200151353	0.00051
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.662C>T (p.Ala221Val)	rs1040557288	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.397C>A (p.Pro133Thr)	rs1553259648
NM_000530.8(MPZ):c.398C>G (p.Pro133Arg)	rs1558154010
NM_000530.8(MPZ):c.421C>T (p.Gln141Ter)	rs1456458087
NM_000530.8(MPZ):c.434_437del (p.Tyr145fs)	rs1553259643
NM_000530.8(MPZ):c.451C>A (p.Pro151Thr)	rs754068936
NM_000530.8(MPZ):c.463G>A (p.Gly155Arg)
NM_000530.8(MPZ):c.499G>C (p.Gly167Arg)	rs121913586
NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del)	rs755446743

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