ClinVar Miner

List of variants in gene MPZ studied for not provided

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Gene type:
ClinVar version:
Total variants: 95
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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.102C>T (p.Thr34=) rs749600926
NM_000530.8(MPZ):c.103G>A (p.Asp35Asn) rs121913596
NM_000530.8(MPZ):c.106A>G (p.Arg36Gly) rs864622732
NM_000530.8(MPZ):c.106A>T (p.Arg36Trp) rs864622732
NM_000530.8(MPZ):c.114C>G (p.Val38=) rs1571820275
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.131C>T (p.Ser44Phe) rs121913598
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.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.188_190del (p.Ser63del) rs879254109
NM_000530.8(MPZ):c.199C>T (p.Arg67Cys) rs775361544
NM_000530.8(MPZ):c.211G>A (p.Glu71Lys) rs573007540
NM_000530.8(MPZ):c.233C>T (p.Ser78Leu) rs121913601
NM_000530.8(MPZ):c.236T>C (p.Ile79Thr) rs1558154256
NM_000530.8(MPZ):c.242A>G (p.His81Arg) rs121913594
NM_000530.8(MPZ):c.24C>T (p.Ser8=) rs144841836
NM_000530.8(MPZ):c.254G>C (p.Gly85Ala) rs1571819324
NM_000530.8(MPZ):c.260C>A (p.Pro87His) rs1571819314
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.270C>T (p.Asp90=)
NM_000530.8(MPZ):c.284T>C (p.Phe95Ser) rs1057519159
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.293G>T (p.Arg98Leu) rs121913589
NM_000530.8(MPZ):c.303G>A (p.Trp101Ter) rs1558154149
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.317G>C (p.Arg106Pro) rs145039212
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.347A>G (p.Asn116Ser) rs281865130
NM_000530.8(MPZ):c.356A>G (p.Tyr119Cys) rs879254038
NM_000530.8(MPZ):c.361G>A (p.Asp121Asn)
NM_000530.8(MPZ):c.366T>G (p.Asn122Lys) rs1064797124
NM_000530.8(MPZ):c.368G>A (p.Gly123Asp) rs1553259656
NM_000530.8(MPZ):c.371C>T (p.Thr124Met) rs121913595
NM_000530.8(MPZ):c.372G>A (p.Thr124=) rs536830537
NM_000530.8(MPZ):c.385G>A (p.Val129Ile) rs201156403
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.404T>C (p.Ile135Thr) rs121913587
NM_000530.8(MPZ):c.409G>A (p.Gly137Ser) rs121913588
NM_000530.8(MPZ):c.417C>T (p.Thr139=) rs1571818696
NM_000530.8(MPZ):c.418T>A (p.Ser140Thr) rs572010627
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>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.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.585-5T>C rs1026836999
NM_000530.8(MPZ):c.585-7_585-5del rs770501358
NM_000530.8(MPZ):c.585-8T>C rs1571817654
NM_000530.8(MPZ):c.595A>G (p.Lys199Glu) rs879254142
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.641G>A (p.Arg214Gln) rs147718043
NM_000530.8(MPZ):c.646dup (p.Thr216fs) rs1553259511
NM_000530.8(MPZ):c.648G>T (p.Thr216=) rs755728895
NM_000530.8(MPZ):c.654G>A (p.Val218=) rs1571817228
NM_000530.8(MPZ):c.655C>T (p.Leu219=) rs1571817225
NM_000530.8(MPZ):c.67+111A>G rs11579939
NM_000530.8(MPZ):c.67+1G>A rs1553260014
NM_000530.8(MPZ):c.67+272C>A rs376976260
NM_000530.8(MPZ):c.68-1G>C rs1057518021
NM_000530.8(MPZ):c.681A>T (p.Arg227Ser) rs1571817146
NM_000530.8(MPZ):c.691G>C (p.Ala231Pro) rs1471261466
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
NM_000530.8(MPZ):c.738T>C (p.Asp246=) rs1571816986
NM_000530.8(MPZ):c.73T>A (p.Ser25Thr) rs997633417
NM_000530.8(MPZ):c.77del (p.Pro26fs) rs1558154754
NM_000530.8(MPZ):c.78G>C (p.Pro26=) rs777790314
NM_000530.8(MPZ):c.86C>T (p.Ala29Val) rs1553259824
NM_000530.8(MPZ):c.90C>G (p.Ile30Met) rs770546306
NM_000530.8(MPZ):c.91G>A (p.Val31Met)

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