ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000530.8(MPZ):c.133C>T (p.Arg45Trp) rs200151353 0.00051
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg) rs202176679 0.00005
NM_000530.8(MPZ):c.428C>T (p.Thr143Met) rs750724650 0.00004
NM_000530.8(MPZ):c.731G>T (p.Arg244Leu) rs749722729 0.00002
NM_000530.8(MPZ):c.542A>G (p.Tyr181Cys) rs372051998 0.00001
NM_000530.8(MPZ):c.231T>G (p.Ile77Met) rs1185426826
NM_000530.8(MPZ):c.266T>A (p.Ile89Asn) rs267607244
NM_000530.8(MPZ):c.271G>A (p.Glu91Lys) rs1383238492
NM_000530.8(MPZ):c.274G>A (p.Val92Met) rs267607245
NM_000530.8(MPZ):c.312C>A (p.Asp104Glu) rs1670265812
NM_000530.8(MPZ):c.337G>T (p.Val113Phe) rs281865126
NM_000530.8(MPZ):c.451C>A (p.Pro151Thr) rs754068936
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.646-3C>A rs750756212
NM_000530.8(MPZ):c.646-7C>G rs377495735
NM_000530.8(MPZ):c.675C>A (p.His225Gln) rs2102257271
NM_000530.8(MPZ):c.692C>A (p.Ala231Asp) rs2102257225

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