List of variants in gene MPZ reported as not provided for Charcot-Marie-Tooth disease dominant intermediate D

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: 25

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HGVS	dbSNP	gnomAD frequency
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg)	rs281865128	0.00001
NM_000530.8(MPZ):c.662C>T (p.Ala221Val)	rs1040557288	0.00001
NM_000530.8(MPZ):c.131C>T (p.Ser44Phe)	rs121913598
NM_000530.8(MPZ):c.164G>T (p.Ser55Ile)	rs281865133
NM_000530.8(MPZ):c.175T>A (p.Ser59Thr)	rs281865122
NM_000530.8(MPZ):c.181G>A (p.Asp61Asn)	rs797044845
NM_000530.8(MPZ):c.224A>T (p.Asp75Val)	rs121913597
NM_000530.8(MPZ):c.241C>T (p.His81Tyr)	rs281865123
NM_000530.8(MPZ):c.242A>G (p.His81Arg)	rs121913594
NM_000530.8(MPZ):c.244T>C (p.Tyr82His)	rs281865124
NM_000530.8(MPZ):c.266T>C (p.Ile89Thr)	rs267607244
NM_000530.8(MPZ):c.306del (p.Asp104fs)	rs281865125
NM_000530.8(MPZ):c.347A>G (p.Asn116Ser)	rs281865130
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.393C>A (p.Asn131Lys)	rs121913599
NM_000530.8(MPZ):c.434_437del (p.Tyr145fs)	rs1553259643
NM_000530.8(MPZ):c.487G>A (p.Gly163Arg)	rs281865128
NM_000530.8(MPZ):c.499G>A (p.Gly167Arg)	rs121913586
NM_000530.8(MPZ):c.588dup (p.Met197fs)	rs281865129
NM_000530.8(MPZ):c.645+1G>T	rs281865131
NM_000530.8(MPZ):c.649C>T (p.Pro217Ser)	rs281865132
NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr)	rs267607247
NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del)	rs755446743
NM_000530.8(MPZ):c.89T>C (p.Ile30Thr)	rs281865121

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