ClinVar Miner

List of variants in gene MPZ reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000530.8(MPZ):c.199C>T (p.Arg67Cys) rs775361544 0.00001
NM_000530.8(MPZ):c.91G>A (p.Val31Met) rs1038909167 0.00001
NM_000530.8(MPZ):c.176C>T (p.Ser59Leu) rs879254297
NM_000530.8(MPZ):c.236T>C (p.Ile79Thr) rs1558154256
NM_000530.8(MPZ):c.260C>A (p.Pro87His) rs1571819314
NM_000530.8(MPZ):c.284T>C (p.Phe95Ser) rs1057519159
NM_000530.8(MPZ):c.312C>A (p.Asp104Glu) rs1670265812
NM_000530.8(MPZ):c.347A>G (p.Asn116Ser) rs281865130
NM_000530.8(MPZ):c.366T>G (p.Asn122Lys) rs1064797124
NM_000530.8(MPZ):c.431T>A (p.Leu144Gln)
NM_000530.8(MPZ):c.691G>C (p.Ala231Pro) rs1471261466
NM_000530.8(MPZ):c.94G>T (p.Val32Phe) rs1034932344

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