ClinVar Miner

List of variants in gene MPZ reported as pathogenic by GeneReviews

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Gene type:
ClinVar version:
Total variants: 26
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HGVS dbSNP
NM_000530.6(MPZ):c.[241C>T;337G>T]
NM_000530.8(MPZ):c.131C>T (p.Ser44Phe) rs121913598
NM_000530.8(MPZ):c.164G>T (p.Ser55Ile) rs281865133
NM_000530.8(MPZ):c.175T>A (p.Ser59Thr) rs281865122
NM_000530.8(MPZ):c.181G>A (p.Asp61Asn) rs797044845
NM_000530.8(MPZ):c.224A>T (p.Asp75Val) rs121913597
NM_000530.8(MPZ):c.241C>T (p.His81Tyr) rs281865123
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.266T>C (p.Ile89Thr) rs267607244
NM_000530.8(MPZ):c.306del (p.Asp104fs) rs281865125
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.371C>T (p.Thr124Met) rs121913595
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.487G>A (p.Gly163Arg) rs281865128
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg) rs281865128
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.588dup (p.Met197fs) rs281865129
NM_000530.8(MPZ):c.645+1G>T rs281865131
NM_000530.8(MPZ):c.649C>T (p.Pro217Ser) rs281865132
NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr) rs267607247
NM_000530.8(MPZ):c.89T>C (p.Ile30Thr) rs281865121
NP_000521.1(MPZ):p.Asn116Ser

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