ClinVar Miner

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

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 44
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HGVS dbSNP
NM_000530.8(MPZ):c.*1C>T
NM_000530.8(MPZ):c.103G>T (p.Asp35Tyr) rs121913596
NM_000530.8(MPZ):c.131C>T (p.Ser44Phe) rs121913598
NM_000530.8(MPZ):c.149G>C (p.Cys50Ser)
NM_000530.8(MPZ):c.174C>T (p.Val58=)
NM_000530.8(MPZ):c.188C>T (p.Ser63Phe) rs121913585
NM_000530.8(MPZ):c.198_199GC[1] (p.Arg67fs)
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.233C>T (p.Ser78Leu) rs121913601
NM_000530.8(MPZ):c.245A>G (p.Tyr82Cys) rs1553259707
NM_000530.8(MPZ):c.24C>T (p.Ser8=) rs144841836
NM_000530.8(MPZ):c.271G>A (p.Glu91Lys) rs1383238492
NM_000530.8(MPZ):c.293G>A (p.Arg98His) rs121913589
NM_000530.8(MPZ):c.296T>C (p.Ile99Thr) rs1571819182
NM_000530.8(MPZ):c.303G>A (p.Trp101Ter) rs1558154149
NM_000530.8(MPZ):c.314C>T (p.Pro105Leu) rs786204215
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.418T>A (p.Ser140Thr) rs572010627
NM_000530.8(MPZ):c.42G>A (p.Leu14=)
NM_000530.8(MPZ):c.434A>G (p.Tyr145Cys) rs121913603
NM_000530.8(MPZ):c.435T>A (p.Tyr145Ter) rs1571818632
NM_000530.8(MPZ):c.448+2T>G
NM_000530.8(MPZ):c.504G>A (p.Val168=) rs145592910
NM_000530.8(MPZ):c.531C>T (p.Tyr177=)
NM_000530.8(MPZ):c.547T>C (p.Trp183Arg) rs753107323
NM_000530.8(MPZ):c.549G>A (p.Trp183Ter)
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.645+10A>G
NM_000530.8(MPZ):c.659A>G (p.Tyr220Cys)
NM_000530.8(MPZ):c.68-3C>A rs1182729605
NM_000530.8(MPZ):c.684C>T (p.Ser228=) rs34307129
NM_000530.8(MPZ):c.703_705AAG[1] (p.Lys236del) rs755446743
NM_000530.8(MPZ):c.704A>G (p.Lys235Arg)
NM_000530.8(MPZ):c.77C>T (p.Pro26Leu) rs530923760

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