ClinVar Miner

List of variants in gene MPZ studied for Charcot-Marie-Tooth disease type 2I; Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease, demyelinating, type 1b; Charcot-Marie-Tooth disease dominant intermediate d; Roussy-Lévy syndrome; Dejerine-Sottas disease; Congenital hypomyelinating neuropathy 1, autosomal recessive

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Total variants: 6
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HGVS dbSNP
NM_000530.8(MPZ):c.133C>T (p.Arg45Trp) rs200151353
NM_000530.8(MPZ):c.371C>T (p.Thr124Met) rs121913595
NM_000530.8(MPZ):c.397C>A (p.Pro133Thr) rs1553259648
NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser) rs121913603
NM_000530.8(MPZ):c.451C>A (p.Pro151Thr) rs754068936
NM_000530.8(MPZ):c.499G>C (p.Gly167Arg) rs121913586

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