ClinVar Miner

List of variants in gene MUTYH reported as likely pathogenic by GeneDx

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Total variants: 22
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HGVS dbSNP
NM_001048171.1(MUTYH):c.1435G>T (p.Val479Phe) rs587782228
NM_001048171.1(MUTYH):c.206C>G (p.Ser69Ter) rs370124822
NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe) rs587780749
NM_001048174.2(MUTYH):c.850-2A>G rs77542170
NM_001128425.1(MUTYH):c.1186G>A (p.Gly396Ser) rs1064795219
NM_001128425.1(MUTYH):c.1435G>T (p.Glu479Ter) rs376790729
NM_001128425.1(MUTYH):c.1476_1476+6del rs864621967
NM_001128425.1(MUTYH):c.1491T>G (p.Tyr497Ter) rs1064793198
NM_001128425.1(MUTYH):c.1501C>T (p.Gln501Ter) rs932830392
NM_001128425.1(MUTYH):c.254A>G (p.His85Arg) rs558707786
NM_001128425.1(MUTYH):c.453_458dup (p.Met153_Gln154insIleTrp) rs876660190
NM_001128425.1(MUTYH):c.548G>A (p.Gly183Asp) rs587781864
NM_001128425.1(MUTYH):c.553C>T (p.Arg185Trp) rs750592289
NM_001128425.1(MUTYH):c.688C>T (p.Gln230Ter) rs1064796630
NM_001128425.1(MUTYH):c.690+1G>T rs878854193
NM_001128425.1(MUTYH):c.778C>T (p.Gln260Ter) rs773087549
NM_001128425.1(MUTYH):c.820C>T (p.Arg274Trp) rs769237459
NM_001128425.1(MUTYH):c.890G>A (p.Cys297Tyr) rs879254257
NM_012222.2(MUTYH):c.1092dup (p.Arg365fs) rs768130289
NM_012222.2(MUTYH):c.1205_1215del (p.Pro402fs) rs863224501
NM_012222.2(MUTYH):c.1312del (p.Glu438fs) rs1064795480
NM_012222.2(MUTYH):c.456del (p.Lys152fs) rs1553129349

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