List of variants in gene MPZ reported as likely pathogenic for not provided

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: 39

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HGVS	dbSNP	gnomAD frequency
NM_000530.8(MPZ):c.200G>A (p.Arg67His)	rs201720099	0.00001
NM_000530.8(MPZ):c.313C>A (p.Pro105Thr)	rs121913609	0.00001
NM_000530.8(MPZ):c.385G>A (p.Val129Ile)	rs201156403	0.00001
NM_000530.8(MPZ):c.418T>A (p.Ser140Thr)	rs572010627	0.00001
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg)	rs281865128	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.130_137del (p.Ser44fs)	rs1571820186
NM_000530.8(MPZ):c.149_151dup (p.Cys50dup)	rs1553259792
NM_000530.8(MPZ):c.166G>A (p.Glu56Lys)	rs1571820067
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.200_201del (p.Arg67fs)	rs1670284480
NM_000530.8(MPZ):c.233C>G (p.Ser78Trp)	rs121913601
NM_000530.8(MPZ):c.244T>C (p.Tyr82His)	rs281865124
NM_000530.8(MPZ):c.253G>A (p.Gly85Arg)	rs2102259270
NM_000530.8(MPZ):c.254G>C (p.Gly85Ala)	rs1571819324
NM_000530.8(MPZ):c.266_270dup (p.Glu91fs)	rs1553259697
NM_000530.8(MPZ):c.26del (p.Ser9fs)	rs1064795521
NM_000530.8(MPZ):c.270C>G (p.Asp90Glu)	rs121913584
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.335T>G (p.Ile112Ser)	rs1553259662
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.409G>A (p.Gly137Ser)	rs121913588
NM_000530.8(MPZ):c.410G>T (p.Gly137Val)	rs863225025
NM_000530.8(MPZ):c.419C>T (p.Ser140Phe)	rs863224449
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.448+1G>T	rs1407955132
NM_000530.8(MPZ):c.615_617delinsC (p.Gly206fs)	rs1571817544
NM_000530.8(MPZ):c.646-2A>G	rs1670228122
NM_000530.8(MPZ):c.699_702del (p.Ser233fs)	rs1571817103
NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del)	rs755446743
NM_000530.8(MPZ):c.88A>G (p.Ile30Val)	rs1386345719

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