ClinVar Miner

List of variants in gene MPZ studied for Inborn genetic diseases

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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_000530.8(MPZ):c.133C>T (p.Arg45Trp) rs200151353 0.00051
NM_000530.8(MPZ):c.51G>A (p.Leu17=) rs149637045 0.00019
NM_000530.8(MPZ):c.384C>T (p.Asp128=) rs772611598 0.00006
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.428C>T (p.Thr143Met) rs750724650 0.00004
NM_000530.8(MPZ):c.454A>G (p.Thr152Ala) rs764402416 0.00004
NM_000530.8(MPZ):c.317G>A (p.Arg106His) rs145039212 0.00003
NM_000530.8(MPZ):c.547T>C (p.Trp183Arg) rs753107323 0.00002
NM_000530.8(MPZ):c.708G>A (p.Lys236=) rs768913825 0.00002
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.214G>T (p.Gly72Trp) rs749459367 0.00001
NM_000530.8(MPZ):c.293G>A (p.Arg98His) rs121913589 0.00001
NM_000530.8(MPZ):c.297C>T (p.Ile99=) rs770430402 0.00001
NM_000530.8(MPZ):c.354C>T (p.Asp118=) rs780896055 0.00001
NM_000530.8(MPZ):c.385G>A (p.Val129Ile) rs201156403 0.00001
NM_000530.8(MPZ):c.483G>C (p.Val161=) rs769244921 0.00001
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg) rs281865128 0.00001
NM_000530.8(MPZ):c.505G>T (p.Val169Leu) rs776316386 0.00001
NM_000530.8(MPZ):c.131C>T (p.Ser44Phe) rs121913598
NM_000530.8(MPZ):c.134G>A (p.Arg45Gln) rs760227243
NM_000530.8(MPZ):c.164G>A (p.Ser55Asn)
NM_000530.8(MPZ):c.166G>A (p.Glu56Lys) rs1571820067
NM_000530.8(MPZ):c.179A>T (p.Asp60Val)
NM_000530.8(MPZ):c.17C>T (p.Pro6Leu)
NM_000530.8(MPZ):c.181dup (p.Asp61fs)
NM_000530.8(MPZ):c.223G>C (p.Asp75His)
NM_000530.8(MPZ):c.234G>A (p.Ser78=) rs368149365
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.29C>T (p.Pro10Leu)
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.308G>A (p.Gly103Glu) rs121913600
NM_000530.8(MPZ):c.312C>A (p.Asp104Glu) rs1670265812
NM_000530.8(MPZ):c.316C>T (p.Arg106Cys) rs1571819084
NM_000530.8(MPZ):c.322A>G (p.Lys108Glu)
NM_000530.8(MPZ):c.347A>G (p.Asn116Ser) rs281865130
NM_000530.8(MPZ):c.371C>T (p.Thr124Met) rs121913595
NM_000530.8(MPZ):c.380G>C (p.Cys127Ser) rs797044941
NM_000530.8(MPZ):c.434_437del (p.Tyr145fs) rs1553259643
NM_000530.8(MPZ):c.462C>A (p.Tyr154Ter) rs1571818312
NM_000530.8(MPZ):c.50T>G (p.Leu17Arg)
NM_000530.8(MPZ):c.585-6T>C
NM_000530.8(MPZ):c.585-7_585-5del rs770501358
NM_000530.8(MPZ):c.600dup (p.Lys201fs) rs1553259529
NM_000530.8(MPZ):c.646-5C>G rs201115971
NM_000530.8(MPZ):c.67+4A>G rs1571822765
NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr) rs267607247
NM_000530.8(MPZ):c.68-1G>A rs1057518021
NM_000530.8(MPZ):c.68-5T>G rs1553259835
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.724del (p.Glu242fs)
NM_000530.8(MPZ):c.730C>A (p.Arg244Ser)

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