List of variants reported as pathogenic for attenuated familial adenomatous polyposis by Baylor Genetics

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 102

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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_002528.7(NTHL1):c.244C>T (p.Gln82Ter)	rs150766139	0.00138
NM_001048174.2(MUTYH):c.849+3A>C	rs587780751	0.00013
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His)	rs140342925	0.00009
NM_002528.7(NTHL1):c.526-1G>A	rs779757251	0.00008
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_002528.7(NTHL1):c.782G>A (p.Trp261Ter)	rs753029097	0.00004
NM_000038.6(APC):c.70C>T (p.Arg24Ter)	rs145945630	0.00003
NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu)	rs529008617	0.00003
NM_002528.7(NTHL1):c.366C>A (p.Tyr122Ter)	rs371328106	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_002528.7(NTHL1):c.115+1G>A	rs749908882	0.00002
NM_000038.6(APC):c.1213C>T (p.Arg405Ter)	rs587779780	0.00001
NM_000038.6(APC):c.646C>T (p.Arg216Ter)	rs62619935	0.00001
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.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_000038.6(APC):c.1100_1101del (p.Ser367fs)	rs387906237
NM_000038.6(APC):c.1234C>T (p.Gln412Ter)	rs876660802
NM_000038.6(APC):c.1312+1G>A	rs863225310
NM_000038.6(APC):c.1312+3A>G	rs863225311
NM_000038.6(APC):c.1312+5G>A	rs886039507
NM_000038.6(APC):c.147_150del (p.Lys49fs)	rs587781694
NM_000038.6(APC):c.1495C>T (p.Arg499Ter)	rs137854580
NM_000038.6(APC):c.1548+1G>A	rs1114167599
NM_000038.6(APC):c.1624C>T (p.Gln542Ter)	rs1580569680
NM_000038.6(APC):c.1674_1680del (p.Asn558fs)
NM_000038.6(APC):c.1690C>T (p.Arg564Ter)	rs137854574
NM_000038.6(APC):c.1865dup (p.Tyr622Ter)	rs2149842963
NM_000038.6(APC):c.1880dup (p.Asn627fs)
NM_000038.6(APC):c.1972_1975del (p.Glu658fs)	rs863225322
NM_000038.6(APC):c.2016_2017del (p.His672fs)	rs2149858813
NM_000038.6(APC):c.2096G>A (p.Trp699Ter)	rs1060503336
NM_000038.6(APC):c.2396_2397del (p.Tyr799fs)
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter)	rs137854575
NM_000038.6(APC):c.288T>A (p.Tyr96Ter)	rs376213437
NM_000038.6(APC):c.298del (p.Glu100fs)	rs1064794224
NM_000038.6(APC):c.301G>T (p.Gly101Ter)	rs863225335
NM_000038.6(APC):c.311C>G (p.Ser104Ter)	rs74953290
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer)	rs587779352
NM_000038.6(APC):c.3202_3205del (p.Ser1068fs)	rs587779353
NM_000038.6(APC):c.3304del (p.Tyr1102fs)
NM_000038.6(APC):c.3340C>T (p.Arg1114Ter)	rs121913331
NM_000038.6(APC):c.3349del (p.Ser1117fs)
NM_000038.6(APC):c.3581C>G (p.Ser1194Ter)
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs)	rs121913224
NM_000038.6(APC):c.423-2A>C	rs879254087
NM_000038.6(APC):c.426_427del (p.Leu143fs)	rs587782557
NM_000038.6(APC):c.4612_4613del (p.Glu1538fs)	rs387906236
NM_000038.6(APC):c.476dup (p.Tyr159Ter)	rs878853451
NM_000038.6(APC):c.477C>G (p.Tyr159Ter)	rs863224281
NM_000038.6(APC):c.509_512del (p.Asp170fs)	rs387906231
NM_000038.6(APC):c.532-1G>A	rs1554072547
NM_000038.6(APC):c.5936_5939del (p.Asn1979fs)	rs587781330
NM_000038.6(APC):c.643C>T (p.Gln215Ter)	rs137854577
NM_000038.6(APC):c.645+1G>T	rs863225370
NM_000038.6(APC):c.667C>T (p.Gln223Ter)	rs1554074738
NM_000038.6(APC):c.6709C>T (p.Arg2237Ter)	rs768922431
NM_000038.6(APC):c.694C>T (p.Arg232Ter)	rs397515734
NM_000038.6(APC):c.7511G>A (p.Trp2504Ter)	rs755046558
NM_000038.6(APC):c.7849_7853del (p.Lys2616_Glu2617insTer)
NM_000038.6(APC):c.847C>T (p.Arg283Ter)	rs786201856
NM_001048174.2(MUTYH):c.1063del (p.Ala357fs)	rs587778536
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs)	rs587780078
NM_001048174.2(MUTYH):c.1272del (p.Tyr425fs)	rs1553125243
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.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.228C>G (p.Tyr76Ter)	rs121908380
NM_001048174.2(MUTYH):c.274del (p.Glu92fs)	rs786203213
NM_001048174.2(MUTYH):c.305-1G>A	rs372267274
NM_001048174.2(MUTYH):c.305-2A>G	rs863224452
NM_001048174.2(MUTYH):c.307T>A (p.Trp103Arg)	rs730881832
NM_001048174.2(MUTYH):c.369_374dup (p.Trp124_Met125insIleTrp)	rs876660190
NM_001048174.2(MUTYH):c.384G>A (p.Trp128Ter)	rs2149161607
NM_001048174.2(MUTYH):c.420+19_420+31del	rs781222233
NM_001048174.2(MUTYH):c.438G>A (p.Trp146Ter)	rs1570423722
NM_001048174.2(MUTYH):c.461G>A (p.Arg154His)	rs143353451
NM_001048174.2(MUTYH):c.629A>G (p.Asn210Ser)	rs1057517765
NM_001048174.2(MUTYH):c.775del (p.Ala259fs)	rs761468459
NM_002528.7(NTHL1):c.211dup (p.Ala71fs)	rs745671590
NM_002528.7(NTHL1):c.366C>G (p.Tyr122Ter)	rs371328106
NM_002528.7(NTHL1):c.521G>A (p.Trp174Ter)
NM_002528.7(NTHL1):c.709dup (p.Ile237fs)	rs2150938411
NM_002691.4(POLD1):c.1421T>C (p.Leu474Pro)	rs587777627
NM_002691.4(POLD1):c.1433G>A (p.Ser478Asn)	rs397514632

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