List of variants in gene MPZ reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_000530.8(MPZ):c.103G>A (p.Asp35Asn)	rs121913596	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.131C>T (p.Ser44Phe)	rs121913598
NM_000530.8(MPZ):c.152C>T (p.Ser51Phe)	rs1553259790
NM_000530.8(MPZ):c.182A>G (p.Asp61Gly)	rs786204119
NM_000530.8(MPZ):c.233C>T (p.Ser78Leu)	rs121913601
NM_000530.8(MPZ):c.235-1G>T	rs1571819375
NM_000530.8(MPZ):c.244T>C (p.Tyr82His)	rs281865124
NM_000530.8(MPZ):c.356A>G (p.Tyr119Cys)	rs879254038
NM_000530.8(MPZ):c.361G>A (p.Asp121Asn)	rs1670263519
NM_000530.8(MPZ):c.371C>T (p.Thr124Met)	rs121913595
NM_000530.8(MPZ):c.681A>T (p.Arg227Ser)	rs1571817146

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