ClinVar Miner

List of variants in gene MPZ reported by Athena Diagnostics Inc

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 60
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000530.8(MPZ):c.684C>T (p.Ser228=) rs34307129 0.01960
NM_000530.8(MPZ):c.600G>A (p.Gly200=) rs16832790 0.01850
NM_000530.8(MPZ):c.51G>A (p.Leu17=) rs149637045 0.00019
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg) rs202176679 0.00005
NM_000530.8(MPZ):c.210C>T (p.Pro70=) rs545129173 0.00004
NM_000530.8(MPZ):c.211G>A (p.Glu71Lys) rs573007540 0.00004
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.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.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.73T>A (p.Ser25Thr) rs997633417 0.00001
NM_000530.8(MPZ):c.104A>G (p.Asp35Gly) rs1553259811
NM_000530.8(MPZ):c.106A>T (p.Arg36Trp) rs864622732
NM_000530.8(MPZ):c.155_157del (p.Phe52del) rs1553259786
NM_000530.8(MPZ):c.176C>T (p.Ser59Leu) rs879254297
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.193A>G (p.Thr65Ala) rs1553259760
NM_000530.8(MPZ):c.197G>A (p.Trp66Ter) rs1571819946
NM_000530.8(MPZ):c.200_201del (p.Arg67fs) rs1670284480
NM_000530.8(MPZ):c.223G>T (p.Asp75Tyr) rs2102259788
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.270C>A (p.Asp90Glu) rs121913584
NM_000530.8(MPZ):c.278G>A (p.Gly93Glu) rs1060503418
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.303G>A (p.Trp101Ter) rs1558154149
NM_000530.8(MPZ):c.317G>C (p.Arg106Pro) rs145039212
NM_000530.8(MPZ):c.349C>A (p.Leu117Ile)
NM_000530.8(MPZ):c.356A>G (p.Tyr119Cys) rs879254038
NM_000530.8(MPZ):c.362A>C (p.Asp121Ala) rs1571818953
NM_000530.8(MPZ):c.371C>T (p.Thr124Met) rs121913595
NM_000530.8(MPZ):c.388A>G (p.Lys130Glu)
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.400G>A (p.Asp134Asn) rs1553259647
NM_000530.8(MPZ):c.409G>A (p.Gly137Ser) rs121913588
NM_000530.8(MPZ):c.410G>A (p.Gly137Asp) rs863225025
NM_000530.8(MPZ):c.410G>T (p.Gly137Val) rs863225025
NM_000530.8(MPZ):c.434_437del (p.Tyr145fs) rs1553259643
NM_000530.8(MPZ):c.448+1G>T rs1407955132
NM_000530.8(MPZ):c.449-4C>T rs765343908
NM_000530.8(MPZ):c.585-7_585-5del rs770501358
NM_000530.8(MPZ):c.646-10_650del rs863225026
NM_000530.8(MPZ):c.646-3C>A rs750756212
NM_000530.8(MPZ):c.646-7C>G rs377495735
NM_000530.8(MPZ):c.646dup (p.Thr216fs) rs1553259511
NM_000530.8(MPZ):c.67+1G>A rs1553260014
NM_000530.8(MPZ):c.68-3C>A rs1182729605
NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del) rs755446743
NM_000530.8(MPZ):c.74C>T (p.Ser25Phe) rs1553259827
NM_000530.8(MPZ):c.77del (p.Pro26fs) rs1558154754
NM_000530.8(MPZ):c.88A>G (p.Ile30Val) rs1386345719
NM_000530.8(MPZ):c.90C>G (p.Ile30Met) rs770546306

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.