ClinVar Miner

List of variants in gene MPZ reported as likely benign for Charcot-Marie-Tooth disease, type I

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Total variants: 11
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HGVS dbSNP
NM_000530.8(MPZ):c.201C>T (p.Arg67=) rs1571819920
NM_000530.8(MPZ):c.210C>T (p.Pro70=) rs545129173
NM_000530.8(MPZ):c.24C>T (p.Ser8=) rs144841836
NM_000530.8(MPZ):c.297C>T (p.Ile99=) rs770430402
NM_000530.8(MPZ):c.354C>T (p.Asp118=) rs780896055
NM_000530.8(MPZ):c.384C>T (p.Asp128=) rs772611598
NM_000530.8(MPZ):c.483G>C (p.Val161=) rs769244921
NM_000530.8(MPZ):c.584+10G>C rs946514874
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg) rs202176679
NM_000530.8(MPZ):c.646-7C>T rs377495735
NM_000530.8(MPZ):c.77C>T (p.Pro26Leu) rs530923760

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