ClinVar Miner

List of variants in gene MPZ reported as uncertain significance by GeneDx

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Gene type:
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Total variants: 11
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HGVS dbSNP
NM_000530.8(MPZ):c.133C>T (p.Arg45Trp) rs200151353
NM_000530.8(MPZ):c.266T>A (p.Ile89Asn) rs267607244
NM_000530.8(MPZ):c.274G>A (p.Val92Met) rs267607245
NM_000530.8(MPZ):c.337G>T (p.Val113Phe) rs281865126
NM_000530.8(MPZ):c.464G>T (p.Gly155Val) rs879254028
NM_000530.8(MPZ):c.595A>G (p.Lys199Glu) rs879254142
NM_000530.8(MPZ):c.610A>G (p.Lys204Glu) rs1064796625
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg) rs202176679
NM_000530.8(MPZ):c.646-3C>A rs750756212
NM_000530.8(MPZ):c.703_705AAG[1] (p.Lys236del) rs755446743
NM_000530.8(MPZ):c.731G>T (p.Arg244Leu) rs749722729

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