ClinVar Miner

List of variants in gene MPZ reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 57
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HGVS dbSNP
NC_000001.11:g.161310092A>G rs28703151
NM_000530.8(MPZ):c.-23_8dup (p.Ala5fs) rs1553260017
NM_000530.8(MPZ):c.-34_-17del rs1553260024
NM_000530.8(MPZ):c.106A>G (p.Arg36Gly) rs864622732
NM_000530.8(MPZ):c.116A>C (p.His39Pro) rs371856018
NM_000530.8(MPZ):c.129_136del (p.Ser44fs) rs760730366
NM_000530.8(MPZ):c.133C>T (p.Arg45Trp) rs200151353
NM_000530.8(MPZ):c.149G>T (p.Cys50Phe) rs876661287
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.188C>G (p.Ser63Cys) rs121913585
NM_000530.8(MPZ):c.188_190del (p.Ser63del) rs879254109
NM_000530.8(MPZ):c.200G>A (p.Arg67His) rs201720099
NM_000530.8(MPZ):c.233C>T (p.Ser78Leu) rs121913601
NM_000530.8(MPZ):c.235-7C>T rs1057522724
NM_000530.8(MPZ):c.24C>T (p.Ser8=) rs144841836
NM_000530.8(MPZ):c.266T>A (p.Ile89Asn) rs267607244
NM_000530.8(MPZ):c.26del (p.Ser9fs) rs1064795521
NM_000530.8(MPZ):c.274G>A (p.Val92Met) rs267607245
NM_000530.8(MPZ):c.292C>T (p.Arg98Cys) rs121913590
NM_000530.8(MPZ):c.293G>A (p.Arg98His) rs121913589
NM_000530.8(MPZ):c.309G>T (p.Gly103=) rs1131691852
NM_000530.8(MPZ):c.313C>A (p.Pro105Thr) rs121913609
NM_000530.8(MPZ):c.332C>G (p.Ser111Cys) rs1553259663
NM_000530.8(MPZ):c.337G>T (p.Val113Phe) rs281865126
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.400G>A (p.Asp134Asn) rs1553259647
NM_000530.8(MPZ):c.404T>C (p.Ile135Thr) rs121913587
NM_000530.8(MPZ):c.424G>T (p.Val142Phe) rs876661257
NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser) rs121913603
NM_000530.8(MPZ):c.434A>G (p.Tyr145Cys) rs121913603
NM_000530.8(MPZ):c.448+122C>T rs6685495
NM_000530.8(MPZ):c.448+64T>C rs6674383
NM_000530.8(MPZ):c.464G>T (p.Gly155Val) rs879254028
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg) rs281865128
NM_000530.8(MPZ):c.504G>A (p.Val168=) rs145592910
NM_000530.8(MPZ):c.51G>A (p.Leu17=) rs149637045
NM_000530.8(MPZ):c.584+2T>G rs879254054
NM_000530.8(MPZ):c.585-2A>T rs1553259536
NM_000530.8(MPZ):c.595A>G (p.Lys199Glu) rs879254142
NM_000530.8(MPZ):c.600G>A (p.Gly200=) rs16832790
NM_000530.8(MPZ):c.610A>G (p.Lys204Glu) rs1064796625
NM_000530.8(MPZ):c.615_617delinsC (p.Gly206fs) rs1571817544
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg) rs202176679
NM_000530.8(MPZ):c.645+12T>C rs750848798
NM_000530.8(MPZ):c.646-3C>A rs750756212
NM_000530.8(MPZ):c.646-7C>G rs377495735
NM_000530.8(MPZ):c.67+111A>G rs11579939
NM_000530.8(MPZ):c.67+272C>A rs376976260
NM_000530.8(MPZ):c.68-1G>C rs1057518021
NM_000530.8(MPZ):c.684C>T (p.Ser228=) rs34307129
NM_000530.8(MPZ):c.699_702del (p.Ser233fs) rs1571817103
NM_000530.8(MPZ):c.703_705AAG[1] (p.Lys236del) rs755446743
NM_000530.8(MPZ):c.708G>A (p.Lys236=) rs768913825
NM_000530.8(MPZ):c.731G>T (p.Arg244Leu) rs749722729

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