ClinVar Miner

List of variants in gene MPZ reported as uncertain significance by Molecular Genetics Laboratory,London Health Sciences Centre

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP
NM_000530.8(MPZ):c.149G>C (p.Cys50Ser)
NM_000530.8(MPZ):c.200G>A (p.Arg67His) rs201720099
NM_000530.8(MPZ):c.208C>A (p.Pro70Thr)
NM_000530.8(MPZ):c.211G>A (p.Glu71Lys) rs573007540
NM_000530.8(MPZ):c.227C>T (p.Ala76Val) rs1170786711
NM_000530.8(MPZ):c.271G>A (p.Glu91Lys) rs1383238492
NM_000530.8(MPZ):c.317G>A (p.Arg106His) rs145039212
NM_000530.8(MPZ):c.319T>A (p.Trp107Arg)
NM_000530.8(MPZ):c.332C>T (p.Ser111Phe) rs1553259663
NM_000530.8(MPZ):c.346A>T (p.Asn116Tyr)
NM_000530.8(MPZ):c.547T>C (p.Trp183Arg) rs753107323
NM_000530.8(MPZ):c.551T>C (p.Leu184Pro)
NM_000530.8(MPZ):c.569T>C (p.Leu190Pro)
NM_000530.8(MPZ):c.592G>C (p.Glu198Gln) rs770994564
NM_000530.8(MPZ):c.612G>C (p.Lys204Asn)
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg) rs202176679
NM_000530.8(MPZ):c.659A>G (p.Tyr220Cys)
NM_000530.8(MPZ):c.68-3C>A rs1182729605
NM_000530.8(MPZ):c.704A>G (p.Lys235Arg)
NM_000530.8(MPZ):c.77C>T (p.Pro26Leu) rs530923760

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