ClinVar Miner

List of variants in gene MUTYH reported as pathogenic by Ambry Genetics

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Total variants: 115
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HGVS dbSNP gnomAD frequency
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_001048174.2(MUTYH):c.849+3A>C rs587780751 0.00013
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) rs140342925 0.00009
NM_001048174.2(MUTYH):c.1156C>T (p.Gln386Ter) rs766420907 0.00006
NM_001048174.2(MUTYH):c.205C>T (p.Arg69Ter) rs138775799 0.00004
NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp) rs765123255 0.00004
NM_001048174.2(MUTYH):c.305-1G>C rs372267274 0.00004
NM_001048174.2(MUTYH):c.928C>T (p.Gln310Ter) rs587780082 0.00004
NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu) rs529008617 0.00003
NM_001048174.2(MUTYH):c.1393G>T (p.Val465Phe) rs587782228 0.00003
NM_001048174.2(MUTYH):c.383G>A (p.Trp128Ter) rs762307622 0.00002
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys) rs747993448 0.00002
NM_001048174.2(MUTYH):c.49del (p.Ala17fs) rs587781704 0.00002
NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp) rs34126013 0.00002
NM_001048174.2(MUTYH):c.649C>T (p.Arg217Cys) rs200495564 0.00002
NM_001048174.2(MUTYH):c.655C>T (p.Arg219Ter) rs587782885 0.00002
NM_001048174.2(MUTYH):c.715C>T (p.Gln239Ter) rs786203115 0.00002
NM_001048174.2(MUTYH):c.1087C>T (p.Gln363Ter) rs587783057 0.00001
NM_001048174.2(MUTYH):c.1102+1G>A rs587781337 0.00001
NM_001048174.2(MUTYH):c.1103-2A>G rs587781628 0.00001
NM_001048174.2(MUTYH):c.164C>G (p.Ser55Ter) rs370124822 0.00001
NM_001048174.2(MUTYH):c.254G>A (p.Trp85Ter) rs888691362 0.00001
NM_001048174.2(MUTYH):c.268G>T (p.Glu90Ter) rs1553129892 0.00001
NM_001048174.2(MUTYH):c.2T>C (p.Met1Thr) rs201163858 0.00001
NM_001048174.2(MUTYH):c.437G>A (p.Trp146Ter) rs1306473047 0.00001
NM_001048174.2(MUTYH):c.43C>T (p.Gln15Ter) rs768386527 0.00001
NM_001048174.2(MUTYH):c.464G>A (p.Gly155Asp) rs587781864 0.00001
NM_001048174.2(MUTYH):c.493-5A>G rs758377868 0.00001
NM_001048174.2(MUTYH):c.502G>T (p.Glu168Ter) rs745921592 0.00001
NM_001048174.2(MUTYH):c.544C>T (p.Gln182Ter) rs376561094 0.00001
NM_001048174.2(MUTYH):c.604C>T (p.Gln202Ter) rs1064796630 0.00001
NM_001048174.2(MUTYH):c.606G>A (p.Gln202=) rs199989617 0.00001
NM_001048174.2(MUTYH):c.614G>A (p.Gly205Asp) rs147487160 0.00001
NM_001048174.2(MUTYH):c.773G>A (p.Gly258Glu) rs730881833 0.00001
NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu) rs374950566 0.00001
NM_001048174.2(MUTYH):c.856C>T (p.Gln286Ter) rs587781338 0.00001
NM_001048174.2(MUTYH):c.1017del (p.Arg340fs) rs768130289
NM_001048174.2(MUTYH):c.1017dup (p.Arg340fs) rs768130289
NM_001048174.2(MUTYH):c.1041T>A (p.Cys347Ter) rs1114167685
NM_001048174.2(MUTYH):c.1043_1055delinsGCCCT (p.Val348fs)
NM_001048174.2(MUTYH):c.1051C>T (p.Gln351Ter) rs745910470
NM_001048174.2(MUTYH):c.1063del (p.Ala357fs) rs587778536
NM_001048174.2(MUTYH):c.1072C>T (p.Gln358Ter)
NM_001048174.2(MUTYH):c.1079T>C (p.Leu360Pro) rs1060501335
NM_001048174.2(MUTYH):c.1121G>A (p.Trp374Ter)
NM_001048174.2(MUTYH):c.1130_1140del (p.Pro377fs) rs863224501
NM_001048174.2(MUTYH):c.1142G>A (p.Trp381Ter)
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs) rs587780078
NM_001048174.2(MUTYH):c.1178dup (p.Gln394fs)
NM_001048174.2(MUTYH):c.1183G>T (p.Glu395Ter) rs1060501321
NM_001048174.2(MUTYH):c.1183del (p.Glu395fs) rs1570373385
NM_001048174.2(MUTYH):c.1196_1205del (p.Trp399fs) rs1553125677
NM_001048174.2(MUTYH):c.1197G>A (p.Trp399Ter) rs1060501325
NM_001048174.2(MUTYH):c.119_122dup (p.Arg42fs)
NM_001048174.2(MUTYH):c.1213del (p.Ala405fs) rs1553125622
NM_001048174.2(MUTYH):c.1239+1G>A
NM_001048174.2(MUTYH):c.126del (p.Arg42fs)
NM_001048174.2(MUTYH):c.1272del (p.Tyr425fs) rs1553125243
NM_001048174.2(MUTYH):c.1284T>G (p.Tyr428Ter)
NM_001048174.2(MUTYH):c.1287del (p.Leu430fs) rs1570366181
NM_001048174.2(MUTYH):c.1318_1319del (p.Thr440fs) rs1553125075
NM_001048174.2(MUTYH):c.1329del (p.Gly444fs)
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del) rs587778541
NM_001048174.2(MUTYH):c.1351G>T (p.Glu451Ter) rs376790729
NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter) rs121908381
NM_001048174.2(MUTYH):c.1359del (p.His454fs)
NM_001048174.2(MUTYH):c.13C>T (p.Arg5Ter) rs587780088
NM_001048174.2(MUTYH):c.168C>A (p.Tyr56Ter) rs1645371113
NM_001048174.2(MUTYH):c.181_182del (p.Asp61fs)
NM_001048174.2(MUTYH):c.190G>T (p.Glu64Ter)
NM_001048174.2(MUTYH):c.192dup (p.Val65fs) rs1570443585
NM_001048174.2(MUTYH):c.224G>A (p.Trp75Ter) rs1553130185
NM_001048174.2(MUTYH):c.225G>A (p.Trp75Ter) rs748170941
NM_001048174.2(MUTYH):c.228C>A (p.Tyr76Ter) rs121908380
NM_001048174.2(MUTYH):c.255G>A (p.Trp85Ter)
NM_001048174.2(MUTYH):c.256_260delinsC (p.Arg86fs)
NM_001048174.2(MUTYH):c.274del (p.Glu92fs) rs786203213
NM_001048174.2(MUTYH):c.292_293del (p.Arg98fs)
NM_001048174.2(MUTYH):c.300T>A (p.Tyr100Ter) rs774798236
NM_001048174.2(MUTYH):c.305-1G>A rs372267274
NM_001048174.2(MUTYH):c.307T>A (p.Trp103Arg) rs730881832
NM_001048174.2(MUTYH):c.309G>A (p.Trp103Ter) rs587781295
NM_001048174.2(MUTYH):c.310del (p.Val104fs) rs1553129676
NM_001048174.2(MUTYH):c.337C>T (p.Gln113Ter) rs876659625
NM_001048174.2(MUTYH):c.360C>G (p.Tyr120Ter) rs1570433022
NM_001048174.2(MUTYH):c.369_374dup (p.Trp124_Met125insIleTrp) rs876660190
NM_001048174.2(MUTYH):c.371G>A (p.Trp124Ter) rs1645261795
NM_001048174.2(MUTYH):c.379A>T (p.Lys127Ter) rs876660787
NM_001048174.2(MUTYH):c.387_389delinsAA (p.Thr130fs) rs1570428456
NM_001048174.2(MUTYH):c.420+19_420+31del rs781222233
NM_001048174.2(MUTYH):c.420+2T>C rs587782730
NM_001048174.2(MUTYH):c.424del (p.Glu141_Val142insTer) rs1553129062
NM_001048174.2(MUTYH):c.430C>T (p.Gln144Ter)
NM_001048174.2(MUTYH):c.438G>A (p.Trp146Ter) rs1570423722
NM_001048174.2(MUTYH):c.442_451del (p.Gly148fs) rs1057517457
NM_001048174.2(MUTYH):c.461G>A (p.Arg154His) rs143353451
NM_001048174.2(MUTYH):c.475C>T (p.Gln159Ter) rs1553128813
NM_001048174.2(MUTYH):c.47del (p.Ala16fs)
NM_001048174.2(MUTYH):c.541C>T (p.Gln181Ter) rs2149151527
NM_001048174.2(MUTYH):c.554del (p.Pro185fs)
NM_001048174.2(MUTYH):c.60del (p.Arg22fs) rs1060501336
NM_001048174.2(MUTYH):c.632_637delinsCAGCTGCT (p.Val211fs) rs1064793197
NM_001048174.2(MUTYH):c.663del (p.Ile221fs)
NM_001048174.2(MUTYH):c.66del (p.Arg22fs)
NM_001048174.2(MUTYH):c.725delinsAG (p.Val242fs) rs1553127825
NM_001048174.2(MUTYH):c.775del (p.Ala259fs) rs761468459
NM_001048174.2(MUTYH):c.77del (p.Ala26fs)
NM_001048174.2(MUTYH):c.793C>T (p.Gln265Ter) rs1553127659
NM_001048174.2(MUTYH):c.834C>G (p.Cys278Trp) rs730881834
NM_001048174.2(MUTYH):c.879del (p.Ser294fs) rs776362892
NM_001048174.2(MUTYH):c.887dup (p.Ser298fs)
NM_001048174.2(MUTYH):c.957_958del (p.Glu319fs)
NM_001048174.2(MUTYH):c.963G>A (p.Trp321Ter) rs1060501324
NM_001128425.2(MUTYH):c.200del (p.Gly67fs) rs746449748

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