List of variants in gene MPZ reported as pathogenic by Invitae

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: 99

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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.103G>A (p.Asp35Asn)	rs121913596	0.00001
NM_000530.8(MPZ):c.116A>C (p.His39Pro)	rs371856018	0.00001
NM_000530.8(MPZ):c.1A>G (p.Met1Val)	rs1427063795	0.00001
NM_000530.8(MPZ):c.200G>A (p.Arg67His)	rs201720099	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.418T>A (p.Ser140Thr)	rs572010627	0.00001
NM_000530.8(MPZ):c.431del (p.Leu144fs)	rs1182353109	0.00001
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg)	rs281865128	0.00001
NM_000530.8(MPZ):c.646-3C>G	rs750756212	0.00001
NC_000001.10:g.(?_161275666)_(161279695_?)del
NC_000001.11:g.(?_161305674)_(161309915_?)dup
NM_000530.8(MPZ):c.103G>T (p.Asp35Tyr)	rs121913596
NM_000530.8(MPZ):c.106A>T (p.Arg36Trp)	rs864622732
NM_000530.8(MPZ):c.129_136del (p.Ser44fs)	rs760730366
NM_000530.8(MPZ):c.130_137del (p.Ser44fs)	rs1571820186
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.159G>A (p.Trp53Ter)	rs1571820100
NM_000530.8(MPZ):c.171G>A (p.Trp57Ter)	rs2102259979
NM_000530.8(MPZ):c.181G>A (p.Asp61Asn)	rs797044845
NM_000530.8(MPZ):c.182A>G (p.Asp61Gly)	rs786204119
NM_000530.8(MPZ):c.188C>G (p.Ser63Cys)	rs121913585
NM_000530.8(MPZ):c.188C>T (p.Ser63Phe)	rs121913585
NM_000530.8(MPZ):c.188_190del (p.Ser63del)	rs879254109
NM_000530.8(MPZ):c.194C>A (p.Thr65Asn)	rs1571819964
NM_000530.8(MPZ):c.194C>T (p.Thr65Ile)	rs1571819964
NM_000530.8(MPZ):c.200_201del (p.Arg67fs)	rs1670284480
NM_000530.8(MPZ):c.204C>A (p.Tyr68Ter)	rs1571819906
NM_000530.8(MPZ):c.208C>T (p.Pro70Ser)	rs1571819890
NM_000530.8(MPZ):c.20C>G (p.Ser7Ter)	rs1558155838
NM_000530.8(MPZ):c.211G>T (p.Glu71Ter)	rs573007540
NM_000530.8(MPZ):c.224A>T (p.Asp75Val)	rs121913597
NM_000530.8(MPZ):c.233C>G (p.Ser78Trp)	rs121913601
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.244T>C (p.Tyr82His)	rs281865124
NM_000530.8(MPZ):c.245A>C (p.Tyr82Ser)	rs1553259707
NM_000530.8(MPZ):c.245A>G (p.Tyr82Cys)	rs1553259707
NM_000530.8(MPZ):c.256C>T (p.Gln86Ter)	rs1553259703
NM_000530.8(MPZ):c.258_263dup (p.Tyr88Ter)
NM_000530.8(MPZ):c.266_270dup (p.Glu91fs)	rs1553259697
NM_000530.8(MPZ):c.270C>A (p.Asp90Glu)	rs121913584
NM_000530.8(MPZ):c.278G>A (p.Gly93Glu)	rs1060503418
NM_000530.8(MPZ):c.286A>G (p.Lys96Glu)	rs121913583
NM_000530.8(MPZ):c.293G>C (p.Arg98Pro)	rs121913589
NM_000530.8(MPZ):c.293G>T (p.Arg98Leu)	rs121913589
NM_000530.8(MPZ):c.296T>C (p.Ile99Thr)	rs1571819182
NM_000530.8(MPZ):c.298C>T (p.Gln100Ter)	rs1553259683
NM_000530.8(MPZ):c.301dup (p.Trp101fs)
NM_000530.8(MPZ):c.302G>A (p.Trp101Ter)	rs1017715903
NM_000530.8(MPZ):c.303G>A (p.Trp101Ter)	rs1558154149
NM_000530.8(MPZ):c.304_305insC (p.Val102fs)
NM_000530.8(MPZ):c.306del (p.Asp104fs)	rs281865125
NM_000530.8(MPZ):c.308G>A (p.Gly103Glu)	rs121913600
NM_000530.8(MPZ):c.309G>T (p.Gly103=)	rs1131691852
NM_000530.8(MPZ):c.314C>T (p.Pro105Leu)	rs786204215
NM_000530.8(MPZ):c.316C>T (p.Arg106Cys)	rs1571819084
NM_000530.8(MPZ):c.323del (p.Lys108fs)	rs2102259042
NM_000530.8(MPZ):c.333_336del (p.Ile112fs)	rs1670264356
NM_000530.8(MPZ):c.341T>C (p.Ile114Thr)	rs267607241
NM_000530.8(MPZ):c.345del (p.His115fs)	rs2102258958
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.380G>A (p.Cys127Tyr)	rs797044941
NM_000530.8(MPZ):c.380_383dup (p.Asp128delinsGluTer)	rs1553259651
NM_000530.8(MPZ):c.389A>G (p.Lys130Arg)	rs281865127
NM_000530.8(MPZ):c.392A>G (p.Asn131Ser)	rs1571818819
NM_000530.8(MPZ):c.393C>A (p.Asn131Lys)	rs121913599
NM_000530.8(MPZ):c.394C>G (p.Pro132Ala)	rs1553259649
NM_000530.8(MPZ):c.397C>A (p.Pro133Thr)	rs1553259648
NM_000530.8(MPZ):c.411C>T (p.Gly137=)	rs1558153994
NM_000530.8(MPZ):c.419C>T (p.Ser140Phe)	rs863224449
NM_000530.8(MPZ):c.424del (p.Val142fs)	rs2102258700
NM_000530.8(MPZ):c.431_433del (p.Leu144_Tyr145delinsHis)	rs1670258438
NM_000530.8(MPZ):c.434_437del (p.Tyr145fs)	rs1553259643
NM_000530.8(MPZ):c.435T>A (p.Tyr145Ter)	rs1571818632
NM_000530.8(MPZ):c.449-1G>C	rs1571818339
NM_000530.8(MPZ):c.486del (p.Ile162fs)	rs1571818248
NM_000530.8(MPZ):c.487G>A (p.Gly163Arg)	rs281865128
NM_000530.8(MPZ):c.491dup (p.Val165fs)	rs1558153783
NM_000530.8(MPZ):c.496del (p.Leu166fs)
NM_000530.8(MPZ):c.499G>A (p.Gly167Arg)	rs121913586
NM_000530.8(MPZ):c.499G>C (p.Gly167Arg)	rs121913586
NM_000530.8(MPZ):c.508_511del (p.Leu170fs)
NM_000530.8(MPZ):c.533_534del (p.Val178fs)
NM_000530.8(MPZ):c.560_563dup (p.Ala189fs)	rs1553259566
NM_000530.8(MPZ):c.571C>T (p.Gln191Ter)	rs2102257979
NM_000530.8(MPZ):c.601A>T (p.Lys201Ter)
NM_000530.8(MPZ):c.638_639del (p.Gly213fs)	rs2102257572
NM_000530.8(MPZ):c.646dup (p.Thr216fs)	rs1553259511
NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr)	rs267607247
NM_000530.8(MPZ):c.679A>T (p.Arg227Ter)	rs1571817154
NM_000530.8(MPZ):c.700G>T (p.Glu234Ter)	rs1670224976
NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del)	rs755446743
NM_000530.8(MPZ):c.77del (p.Pro26fs)	rs1558154754
NM_000530.8(MPZ):c.90C>G (p.Ile30Met)	rs770546306

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