List of variants in gene MPZ reported as likely pathogenic by GeneDx

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: 19

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HGVS	dbSNP	gnomAD frequency
NM_000530.8(MPZ):c.313C>A (p.Pro105Thr)	rs121913609	0.00001
NM_000530.8(MPZ):c.103G>T (p.Asp35Tyr)	rs121913596
NM_000530.8(MPZ):c.106A>G (p.Arg36Gly)	rs864622732
NM_000530.8(MPZ):c.149_151dup (p.Cys50dup)	rs1553259792
NM_000530.8(MPZ):c.176C>T (p.Ser59Leu)	rs879254297
NM_000530.8(MPZ):c.182A>G (p.Asp61Gly)	rs786204119
NM_000530.8(MPZ):c.26del (p.Ser9fs)	rs1064795521
NM_000530.8(MPZ):c.278G>A (p.Gly93Glu)	rs1060503418
NM_000530.8(MPZ):c.309G>T (p.Gly103=)	rs1131691852
NM_000530.8(MPZ):c.332C>G (p.Ser111Cys)	rs1553259663
NM_000530.8(MPZ):c.356A>G (p.Tyr119Cys)	rs879254038
NM_000530.8(MPZ):c.368G>A (p.Gly123Asp)	rs1553259656
NM_000530.8(MPZ):c.397C>T (p.Pro133Ser)	rs1553259648
NM_000530.8(MPZ):c.400G>A (p.Asp134Asn)	rs1553259647
NM_000530.8(MPZ):c.424G>T (p.Val142Phe)	rs876661257
NM_000530.8(MPZ):c.434A>G (p.Tyr145Cys)	rs121913603
NM_000530.8(MPZ):c.615_617delinsC (p.Gly206fs)	rs1571817544
NM_000530.8(MPZ):c.699_702del (p.Ser233fs)	rs1571817103
NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del)	rs755446743

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