List of variants in gene MPZ reported as pathogenic by Athena Diagnostics Inc

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.434A>C (p.Tyr145Ser)	rs121913603	0.00004
NM_000530.8(MPZ):c.116A>C (p.His39Pro)	rs371856018	0.00001
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_000530.8(MPZ):c.487G>C (p.Gly163Arg)	rs281865128	0.00001
NM_000530.8(MPZ):c.106A>T (p.Arg36Trp)	rs864622732
NM_000530.8(MPZ):c.181G>A (p.Asp61Asn)	rs797044845
NM_000530.8(MPZ):c.188C>G (p.Ser63Cys)	rs121913585
NM_000530.8(MPZ):c.197G>A (p.Trp66Ter)	rs1571819946
NM_000530.8(MPZ):c.233C>T (p.Ser78Leu)	rs121913601
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.293G>C (p.Arg98Pro)	rs121913589
NM_000530.8(MPZ):c.303G>A (p.Trp101Ter)	rs1558154149
NM_000530.8(MPZ):c.356A>G (p.Tyr119Cys)	rs879254038
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.410G>A (p.Gly137Asp)	rs863225025
NM_000530.8(MPZ):c.434_437del (p.Tyr145fs)	rs1553259643
NM_000530.8(MPZ):c.646-10_650del	rs863225026
NM_000530.8(MPZ):c.646dup (p.Thr216fs)	rs1553259511
NM_000530.8(MPZ):c.67+1G>A	rs1553260014
NM_000530.8(MPZ):c.77del (p.Pro26fs)	rs1558154754
NM_000530.8(MPZ):c.90C>G (p.Ile30Met)	rs770546306

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