ClinVar Miner

List of variants in gene MUTYH reported as pathogenic by GeneDx

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Total variants: 41
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HGVS dbSNP
NM_001048171.1(MUTYH):c.1105del (p.Ala371fs) rs587778536
NM_001048171.1(MUTYH):c.247C>T (p.Arg83Ter) rs138775799
NM_001048171.1(MUTYH):c.267G>A (p.Trp89Ter) rs748170941
NM_001048171.1(MUTYH):c.270C>A (p.Tyr90Ter) rs121908380
NM_001048171.1(MUTYH):c.425G>A (p.Trp142Ter) rs762307622
NM_001048171.1(MUTYH):c.502C>T (p.Arg168Cys) rs747993448
NM_001048171.1(MUTYH):c.697C>T (p.Arg233Ter) rs587782885
NM_001048171.1(MUTYH):c.970C>T (p.Gln324Ter) rs587780082
NM_001048174.2(MUTYH):c.1087C>T (p.Gln363Ter) rs587783057
NM_001048174.2(MUTYH):c.1103-2A>G rs587781628
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs) rs587780078
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del) rs587778541
NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter) rs121908381
NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp) rs765123255
NM_001048174.2(MUTYH):c.305-1G>C rs372267274
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342
NM_001048174.2(MUTYH):c.461G>A (p.Arg154His) rs143353451
NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp) rs34126013
NM_001048174.2(MUTYH):c.849+3A>C rs587780751
NM_001128425.1(MUTYH):c.308G>A (p.Trp103Ter) rs1553130185
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.463-1G>A rs1057520660
NM_001128425.1(MUTYH):c.463A>T (p.Lys155Ter) rs876660787
NM_001128425.1(MUTYH):c.55C>T (p.Arg19Ter) rs587780088
NM_001128425.1(MUTYH):c.586G>T (p.Glu196Ter) rs745921592
NM_001128425.1(MUTYH):c.628C>T (p.Gln210Ter) rs376561094
NM_001128425.1(MUTYH):c.713A>G (p.Asn238Ser) rs1057517765
NM_001128425.1(MUTYH):c.847A>G (p.Met283Val) rs876659676
NM_001128425.1(MUTYH):c.857G>A (p.Gly286Glu) rs730881833
NM_001128425.1(MUTYH):c.940C>T (p.Gln314Ter) rs587781338
NM_001293192.1(MUTYH):c.-164del rs587781704
NM_001293192.1(MUTYH):c.-97-64del rs746449748
NM_012222.2(MUTYH):c.1178-32_1190del rs886039606
NM_012222.2(MUTYH):c.1205C>T (p.Pro402Leu) rs529008617
NM_012222.2(MUTYH):c.1438dup (p.Thr480fs) rs1553124893
NM_012222.2(MUTYH):c.707_712delinsCAGCTGCT (p.Val236fs) rs1064793197
NM_012222.2(MUTYH):c.724C>T (p.Arg242Cys) rs200495564
NM_012222.2(MUTYH):c.725G>A (p.Arg242His) rs140342925
NM_012222.2(MUTYH):c.875C>T (p.Pro292Leu) rs374950566

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