ClinVar Miner

List of variants in gene MUTYH reported as pathogenic for Hereditary cancer-predisposing syndrome

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Total variants: 79
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HGVS dbSNP
NM_001048171.1(MUTYH):c.1005G>A (p.Trp335Ter) rs1060501324
NM_001048171.1(MUTYH):c.1105del (p.Ala371fs) rs587778536
NM_001048171.1(MUTYH):c.1435G>T (p.Val479Phe) rs587782228
NM_001048171.1(MUTYH):c.206C>G (p.Ser69Ter) rs370124822
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.310G>T (p.Glu104Ter) rs1553129892
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.85C>T (p.Gln29Ter) rs768386527
NM_001048171.1(MUTYH):c.970C>T (p.Gln324Ter) rs587780082
NM_001048174.2(MUTYH):c.1051C>T (p.Gln351Ter) rs745910470
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.1183del (p.Glu395fs) rs1570373385
NM_001048174.2(MUTYH):c.1287del (p.Leu430fs) rs1570366181
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.168C>A (p.Tyr56Ter)
NM_001048174.2(MUTYH):c.210del (p.Ser71fs) rs1557486313
NM_001048174.2(MUTYH):c.305-1G>C rs372267274
NM_001048174.2(MUTYH):c.360C>G (p.Tyr120Ter) rs1570433022
NM_001048174.2(MUTYH):c.387_389delinsAA (p.Thr130fs) rs1570428456
NM_001048174.2(MUTYH):c.438G>A (p.Trp146Ter) rs1570423722
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342
NM_001048174.2(MUTYH):c.453C>G (p.Tyr151Ter)
NM_001048174.2(MUTYH):c.461G>A (p.Arg154His) rs143353451
NM_001048174.2(MUTYH):c.54_57dup (p.Glu20fs)
NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp) rs34126013
NM_001048174.2(MUTYH):c.793C>T (p.Gln265Ter) rs1553127659
NM_001048174.2(MUTYH):c.849+3A>C rs587780751
NM_001048174.2(MUTYH):c.90_93del (p.Ser30fs)
NM_001128425.1(MUTYH):c.1078del (p.Arg360fs) rs1057517456
NM_001128425.1(MUTYH):c.1101del (p.Arg368fs) rs768130289
NM_001128425.1(MUTYH):c.1125T>A (p.Cys375Ter) rs1114167685
NM_001128425.1(MUTYH):c.1163T>C (p.Leu388Pro) rs1060501335
NM_001128425.1(MUTYH):c.1240C>T (p.Gln414Ter) rs766420907
NM_001128425.1(MUTYH):c.1281G>A (p.Trp427Ter) rs1060501325
NM_001128425.1(MUTYH):c.1402_1403del (p.Thr468fs) rs1553125075
NM_001128425.1(MUTYH):c.1435G>T (p.Glu479Ter) rs376790729
NM_001128425.1(MUTYH):c.1474A>T (p.Lys492Ter) rs863224502
NM_001128425.1(MUTYH):c.308G>A (p.Trp103Ter) rs1553130185
NM_001128425.1(MUTYH):c.338G>A (p.Trp113Ter) rs888691362
NM_001128425.1(MUTYH):c.389-1G>A rs372267274
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.421C>T (p.Gln141Ter) rs876659625
NM_001128425.1(MUTYH):c.453_458dup (p.Met153_Gln154insIleTrp) rs876660190
NM_001128425.1(MUTYH):c.463A>T (p.Lys155Ter) rs876660787
NM_001128425.1(MUTYH):c.504+2T>C rs587782730
NM_001128425.1(MUTYH):c.526_535del (p.Gly176fs) rs1057517457
NM_001128425.1(MUTYH):c.548G>A (p.Gly183Asp) rs587781864
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.688C>T (p.Gln230Ter) rs1064796630
NM_001128425.1(MUTYH):c.690G>A (p.Gln230=) rs199989617
NM_001128425.1(MUTYH):c.799C>T (p.Gln267Ter) rs786203115
NM_001128425.1(MUTYH):c.857G>A (p.Gly286Glu) rs730881833
NM_001128425.1(MUTYH):c.859del (p.Ala287fs) rs761468459
NM_001128425.1(MUTYH):c.940C>T (p.Gln314Ter) rs587781338
NM_001293192.1(MUTYH):c.-164del rs587781704
NM_001293192.1(MUTYH):c.-3del rs786203213
NM_001293192.1(MUTYH):c.-97-64del rs746449748
NM_001350650.1(MUTYH):c.33+120del rs1553129676
NM_012222.2(MUTYH):c.1092_1110del (p.Arg365fs) rs869312771
NM_012222.2(MUTYH):c.1092dup (p.Arg365fs) rs768130289
NM_012222.2(MUTYH):c.1205C>T (p.Pro402Leu) rs529008617
NM_012222.2(MUTYH):c.1288del (p.Ala430fs) rs1553125622
NM_012222.2(MUTYH):c.1347del (p.Tyr450fs) rs1553125243
NM_012222.2(MUTYH):c.1541_1542delinsAG (p.Cys514Ter) rs587782716
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
NM_012222.2(MUTYH):c.954del (p.Ser319fs) rs776362892

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