ClinVar Miner

List of variants in gene MUTYH reported as pathogenic by Color Diagnostics, LLC DBA Color Health

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Total variants: 59
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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.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.1103-2A>G rs587781628 0.00001
NM_001048174.2(MUTYH):c.1390A>T (p.Lys464Ter) rs863224502 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.43C>T (p.Gln15Ter) rs768386527 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.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.1063del (p.Ala357fs) rs587778536
NM_001048174.2(MUTYH):c.1085del (p.Val362fs)
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs) rs587780078
NM_001048174.2(MUTYH):c.1182_1194del (p.Gln394fs)
NM_001048174.2(MUTYH):c.1272del (p.Tyr425fs) rs1553125243
NM_001048174.2(MUTYH):c.1318_1319del (p.Thr440fs) rs1553125075
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.13C>T (p.Arg5Ter) rs587780088
NM_001048174.2(MUTYH):c.168C>A (p.Tyr56Ter) rs1645371113
NM_001048174.2(MUTYH):c.197del (p.Thr66fs)
NM_001048174.2(MUTYH):c.210del (p.Ser71fs) rs1557486313
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.305-1G>A rs372267274
NM_001048174.2(MUTYH):c.309G>A (p.Trp103Ter) rs587781295
NM_001048174.2(MUTYH):c.369_374dup (p.Trp124_Met125insIleTrp) rs876660190
NM_001048174.2(MUTYH):c.379A>T (p.Lys127Ter) rs876660787
NM_001048174.2(MUTYH):c.384G>A (p.Trp128Ter) rs2149161607
NM_001048174.2(MUTYH):c.442_451del (p.Gly148fs) rs1057517457
NM_001048174.2(MUTYH):c.453C>G (p.Tyr151Ter) rs1645192561
NM_001048174.2(MUTYH):c.461G>A (p.Arg154His) rs143353451
NM_001048174.2(MUTYH):c.54_57dup (p.Glu20fs) rs1645571595
NM_001048174.2(MUTYH):c.775del (p.Ala259fs) rs761468459
NM_001048174.2(MUTYH):c.90_93del (p.Ser30fs) rs1645561773
NM_001048174.2(MUTYH):c.963G>A (p.Trp321Ter) rs1060501324
NM_001048174.2(MUTYH):c.994del (p.Arg332fs) rs1057517456

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