ClinVar Miner

List of variants reported as likely pathogenic for MUTYH-associated polyposis

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Total variants: 10
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HGVS dbSNP
NM_001128425.1(MUTYH):c.1163T>C (p.Leu388Pro) rs1060501335
NM_001128425.1(MUTYH):c.1435G>T (p.Glu479Ter) rs376790729
NM_001128425.1(MUTYH):c.1477G>T (p.Val493Phe) rs587782228
NM_001128425.1(MUTYH):c.200del (p.Gly67fs) rs746449748
NM_001128425.1(MUTYH):c.325C>T (p.Arg109Trp) rs765123255
NM_001128425.1(MUTYH):c.338G>A (p.Trp113Ter) rs888691362
NM_001128425.1(MUTYH):c.391T>A (p.Trp131Arg) rs730881832
NM_001128425.1(MUTYH):c.393G>A (p.Trp131Ter) rs587781295
NM_001128425.1(MUTYH):c.508del (p.Glu169_Val170insTer) rs1553129062
NM_001128425.1(MUTYH):c.857G>A (p.Gly286Glu) rs730881833

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