ClinVar Miner

List of variants in gene MPZ reported as pathogenic for Inborn genetic diseases

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000530.8(MPZ):c.116A>C (p.His39Pro) rs371856018 0.00001
NM_000530.8(MPZ):c.293G>A (p.Arg98His) rs121913589 0.00001
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg) rs281865128 0.00001
NM_000530.8(MPZ):c.131C>T (p.Ser44Phe) rs121913598
NM_000530.8(MPZ):c.181dup (p.Asp61fs)
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.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

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