ClinVar Miner

List of variants reported as uncertain significance for attenuated familial adenomatous polyposis by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 230
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HGVS dbSNP gnomAD frequency
NM_002528.7(NTHL1):c.274C>T (p.Arg92Cys) rs148104494 0.00086
NM_001048174.2(MUTYH):c.1424G>A (p.Gly475Glu) rs3219494 0.00076
NM_001127511.3(APC):c.-204A>G rs554351451 0.00076
NM_002439.5(MSH3):c.2016T>G (p.Ile672Met) rs139593361 0.00046
NM_002691.4(POLD1):c.961G>A (p.Gly321Ser) rs41554817 0.00029
NM_002691.4(POLD1):c.2861C>G (p.Thr954Arg) rs374016016 0.00026
NM_006231.4(POLE):c.2683G>A (p.Ala895Thr) rs201115064 0.00024
NM_000038.6(APC):c.7036C>T (p.Pro2346Ser) rs200756935 0.00022
NM_000038.6(APC):c.8462A>G (p.Asp2821Gly) rs780049836 0.00021
NM_001048174.2(MUTYH):c.848G>A (p.Arg283Lys) rs149342980 0.00021
NM_006231.4(POLE):c.1A>C (p.Met1Leu) rs878854847 0.00019
NM_002691.4(POLD1):c.353C>T (p.Ser118Phe) rs780604625 0.00016
NM_006231.4(POLE):c.154C>T (p.Arg52Trp) rs115452881 0.00016
NM_006231.4(POLE):c.3245G>A (p.Arg1082His) rs201744227 0.00016
NM_000038.6(APC):c.1606G>A (p.Glu536Lys) rs138098808 0.00015
NM_006231.4(POLE):c.6531+5G>A rs368538240 0.00013
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu) rs587780600 0.00012
NM_006231.4(POLE):c.1064A>G (p.Lys355Arg) rs141396559 0.00012
NM_006231.4(POLE):c.6674G>A (p.Arg2225His) rs538875477 0.00012
NM_006231.4(POLE):c.4603G>A (p.Gly1535Ser) rs138564205 0.00011
NM_006231.4(POLE):c.6050G>A (p.Arg2017His) rs144178150 0.00011
NM_006231.4(POLE):c.2773T>C (p.Ser925Pro) rs141552148 0.00010
NM_006231.4(POLE):c.4450A>C (p.Ile1484Leu) rs772734618 0.00010
NM_006231.4(POLE):c.6454G>A (p.Val2152Met) rs138789360 0.00010
NM_006231.4(POLE):c.6730C>T (p.Leu2244Phe) rs375741031 0.00010
NM_001048174.2(MUTYH):c.1171G>A (p.Ala391Thr) rs587780744 0.00009
NM_001048174.2(MUTYH):c.583A>G (p.Ile195Val) rs200872702 0.00009
NM_006231.4(POLE):c.431A>G (p.His144Arg) rs755709875 0.00009
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly) rs201375478 0.00008
NM_001048174.2(MUTYH):c.1333G>A (p.Ala445Thr) rs192816572 0.00008
NM_001048174.2(MUTYH):c.901G>A (p.Val301Met) rs147718169 0.00008
NM_002691.4(POLD1):c.1574G>A (p.Arg525Gln) rs372190244 0.00008
NM_006231.4(POLE):c.1868A>G (p.Tyr623Cys) rs150564856 0.00008
NM_006231.4(POLE):c.4736G>A (p.Arg1579His) rs375590443 0.00008
NM_000038.6(APC):c.8389A>G (p.Ser2797Gly) rs147287751 0.00007
NM_002691.4(POLD1):c.713C>T (p.Thr238Met) rs553342844 0.00007
NM_006231.4(POLE):c.3230G>A (p.Arg1077His) rs768950975 0.00007
NM_000038.6(APC):c.1193A>G (p.Lys398Arg) rs145912662 0.00006
NM_001048174.2(MUTYH):c.488G>A (p.Arg163Gln) rs369677603 0.00006
NM_001048174.2(MUTYH):c.849A>T (p.Arg283Ser) rs369973885 0.00006
NM_002528.7(NTHL1):c.31C>T (p.Arg11Trp) rs549760347 0.00006
NM_002691.4(POLD1):c.245C>T (p.Pro82Leu) rs201006221 0.00006
NM_002691.4(POLD1):c.2467C>T (p.Arg823Cys) rs376946722 0.00006
NM_002691.4(POLD1):c.301A>T (p.Ile101Phe) rs140858857 0.00006
NM_002691.4(POLD1):c.3038T>C (p.Ile1013Thr) rs368439344 0.00006
NM_002691.4(POLD1):c.34G>A (p.Gly12Arg) rs772197667 0.00006
NM_002691.4(POLD1):c.496C>T (p.Arg166Trp) rs376236497 0.00006
NM_006231.4(POLE):c.4285A>T (p.Thr1429Ser) rs759497382 0.00006
NM_006231.4(POLE):c.4901G>A (p.Arg1634His) rs760149463 0.00006
NM_000038.6(APC):c.1553C>T (p.Thr518Met) rs371453363 0.00005
NM_000038.6(APC):c.4372C>T (p.Pro1458Ser) rs143796828 0.00005
NM_002691.4(POLD1):c.1322C>T (p.Thr441Met) rs376711125 0.00005
NM_006231.4(POLE):c.3857G>A (p.Arg1286His) rs771823596 0.00005
NM_000038.6(APC):c.1762G>A (p.Val588Ile) rs372416031 0.00004
NM_000038.6(APC):c.5894A>C (p.His1965Pro) rs773776516 0.00004
NM_000038.6(APC):c.6639G>A (p.Met2213Ile) rs35540155 0.00004
NM_000038.6(APC):c.7531C>T (p.Leu2511Phe) rs72541815 0.00004
NM_000038.6(APC):c.776G>A (p.Arg259Gln) rs767457050 0.00004
NM_001048174.2(MUTYH):c.1336C>T (p.Arg446Cys) rs200229669 0.00004
NM_001127511.3(APC):c.-167G>A rs1278244063 0.00004
NM_002691.4(POLD1):c.1363G>A (p.Val455Met) rs762670703 0.00004
NM_002691.4(POLD1):c.1930G>A (p.Asp644Asn) rs763465385 0.00004
NM_002691.4(POLD1):c.2290G>A (p.Gly764Ser) rs148838746 0.00004
NM_006231.4(POLE):c.2131T>C (p.Ser711Pro) rs374800058 0.00004
NM_006231.4(POLE):c.2770C>T (p.Arg924Cys) rs369751686 0.00004
NM_006231.4(POLE):c.4343A>G (p.Asn1448Ser) rs150545516 0.00004
NM_006231.4(POLE):c.4477G>A (p.Ala1493Thr) rs748522633 0.00004
NM_006231.4(POLE):c.4493C>T (p.Ala1498Val) rs751465593 0.00004
NM_006231.4(POLE):c.4582G>A (p.Ala1528Thr) rs373468985 0.00004
NM_006231.4(POLE):c.5662G>A (p.Glu1888Lys) rs368363850 0.00004
NM_006231.4(POLE):c.6445C>T (p.Arg2149Cys) rs771490182 0.00004
NM_006231.4(POLE):c.6476G>A (p.Arg2159His) rs373092830 0.00004
NM_000038.6(APC):c.1241G>A (p.Arg414His) rs730881233 0.00003
NM_000038.6(APC):c.7808A>G (p.Glu2603Gly) rs587779807 0.00003
NM_000038.6(APC):c.791A>G (p.Gln264Arg) rs369345931 0.00003
NM_000038.6(APC):c.854A>G (p.Asp285Gly) rs201093383 0.00003
NM_001048174.2(MUTYH):c.263G>A (p.Arg88Gln) rs587782683 0.00003
NM_001048174.2(MUTYH):c.356A>G (p.Asn119Ser) rs771641237 0.00003
NM_001048174.2(MUTYH):c.991C>A (p.Pro331Thr) rs587782773 0.00003
NM_001127511.3(APC):c.-32C>T rs1015952631 0.00003
NM_001127511.3(APC):c.-88T>G rs531931776 0.00003
NM_001127511.3(APC):c.1A>G (p.Met1Val) rs189807660 0.00003
NM_002691.4(POLD1):c.1157G>A (p.Arg386His) rs764023083 0.00003
NM_006231.4(POLE):c.-47G>T rs1014146082 0.00003
NM_006231.4(POLE):c.1108C>A (p.Pro370Thr) rs576578672 0.00003
NM_006231.4(POLE):c.2276G>A (p.Arg759His) rs746774432 0.00003
NM_006231.4(POLE):c.274A>C (p.Ser92Arg) rs758382516 0.00003
NM_006231.4(POLE):c.4145G>A (p.Arg1382His) rs143229302 0.00003
NM_006231.4(POLE):c.6049C>T (p.Arg2017Cys) rs115452769 0.00003
NM_000038.6(APC):c.1538T>C (p.Val513Ala) rs876658167 0.00002
NM_000038.6(APC):c.3661C>T (p.Pro1221Ser) rs760999992 0.00002
NM_000038.6(APC):c.4399C>T (p.Pro1467Ser) rs749142480 0.00002
NM_000038.6(APC):c.5363G>A (p.Arg1788His) rs201472075 0.00002
NM_000038.6(APC):c.7105C>T (p.Pro2369Ser) rs377308875 0.00002
NM_000038.6(APC):c.7166G>A (p.Ser2389Asn) rs779287035 0.00002
NM_000038.6(APC):c.8017A>G (p.Arg2673Gly) rs767286063 0.00002
NM_001048174.2(MUTYH):c.1166G>A (p.Arg389His) rs373803765 0.00002
NM_001048174.2(MUTYH):c.916C>G (p.Pro306Ala) rs587778537 0.00002
NM_001128425.2(MUTYH):c.17C>A (p.Ser6Tyr) rs587782837 0.00002
NM_002528.7(NTHL1):c.20G>C (p.Arg7Thr) rs930166212 0.00002
NM_002691.4(POLD1):c.1918A>G (p.Thr640Ala) rs201212113 0.00002
NM_002691.4(POLD1):c.2197C>G (p.Gln733Glu) rs1471359934 0.00002
NM_002691.4(POLD1):c.2563C>T (p.Arg855Ter) rs768048535 0.00002
NM_002691.4(POLD1):c.3167C>T (p.Thr1056Met) rs772397517 0.00002
NM_002691.4(POLD1):c.376C>T (p.Arg126Cys) rs864622753 0.00002
NM_006231.4(POLE):c.1940A>T (p.Asp647Val) rs1060500884 0.00002
NM_006231.4(POLE):c.34G>A (p.Asp12Asn) rs1355767159 0.00002
NM_006231.4(POLE):c.3989C>T (p.Pro1330Leu) rs1409584745 0.00002
NM_006231.4(POLE):c.4270G>A (p.Glu1424Lys) rs575419120 0.00002
NM_006231.4(POLE):c.4759G>A (p.Val1587Ile) rs372388555 0.00002
NM_006231.4(POLE):c.5267T>A (p.Ile1756Asn) rs199535980 0.00002
NM_006231.4(POLE):c.5382C>G (p.Ile1794Met) rs368364666 0.00002
NM_006231.4(POLE):c.5761A>G (p.Asn1921Asp) rs771980261 0.00002
NM_006231.4(POLE):c.6434G>A (p.Arg2145Gln) rs770009143 0.00002
NM_006231.4(POLE):c.6796G>A (p.Gly2266Ser) rs200911338 0.00002
NM_006231.4(POLE):c.724C>T (p.His242Tyr) rs148525573 0.00002
NM_000038.6(APC):c.2114G>A (p.Ser705Asn) rs752874220 0.00001
NM_000038.6(APC):c.212G>A (p.Arg71His) rs750503329 0.00001
NM_000038.6(APC):c.2474A>G (p.Tyr825Cys) rs186641437 0.00001
NM_000038.6(APC):c.3515A>T (p.His1172Leu) rs1024630299 0.00001
NM_000038.6(APC):c.4430A>G (p.Gln1477Arg) rs1479009365 0.00001
NM_000038.6(APC):c.4963A>G (p.Thr1655Ala) rs759441332 0.00001
NM_000038.6(APC):c.5105G>A (p.Gly1702Glu) rs769273526 0.00001
NM_000038.6(APC):c.5282A>C (p.Asn1761Thr) rs752038930 0.00001
NM_000038.6(APC):c.5615T>A (p.Val1872Asp) rs748389037 0.00001
NM_000038.6(APC):c.5627G>T (p.Arg1876Met) rs773201570 0.00001
NM_000038.6(APC):c.6736G>A (p.Val2246Ile) rs1055180096 0.00001
NM_000038.6(APC):c.7136C>G (p.Thr2379Ser) rs767691072 0.00001
NM_000038.6(APC):c.8276G>A (p.Arg2759His) rs538289470 0.00001
NM_000038.6(APC):c.8282C>T (p.Pro2761Leu) rs757874563 0.00001
NM_001048174.2(MUTYH):c.1346C>A (p.Thr449Lys) rs767747402 0.00001
NM_001048174.2(MUTYH):c.1409A>G (p.Gln470Arg) rs587780085 0.00001
NM_001048174.2(MUTYH):c.310G>A (p.Val104Ile) rs763273196 0.00001
NM_001048174.2(MUTYH):c.565C>T (p.Arg189Cys) rs537292657 0.00001
NM_001048174.2(MUTYH):c.602G>A (p.Gly201Asp) rs752114814 0.00001
NM_001048174.2(MUTYH):c.614G>A (p.Gly205Asp) rs147487160 0.00001
NM_002439.5(MSH3):c.1453+5A>C rs1743273324 0.00001
NM_002528.7(NTHL1):c.94C>T (p.Arg32Trp) rs1285624591 0.00001
NM_002691.4(POLD1):c.1291A>G (p.Ile431Val) rs752444746 0.00001
NM_002691.4(POLD1):c.1516C>T (p.Arg506Cys) rs528292347 0.00001
NM_002691.4(POLD1):c.1717G>T (p.Val573Leu) rs760616076 0.00001
NM_002691.4(POLD1):c.1811C>A (p.Ser604Tyr) rs1060501807 0.00001
NM_002691.4(POLD1):c.1867C>T (p.Arg623Trp) rs768773535 0.00001
NM_002691.4(POLD1):c.203G>A (p.Gly68Glu) rs144707871 0.00001
NM_002691.4(POLD1):c.2142G>A (p.Leu714=) rs1060501816 0.00001
NM_002691.4(POLD1):c.2760C>G (p.Asp920Glu) rs1057521209 0.00001
NM_002691.4(POLD1):c.2953C>T (p.Arg985Trp) rs780926432 0.00001
NM_002691.4(POLD1):c.590-2A>G rs758877520 0.00001
NM_002691.4(POLD1):c.820G>A (p.Ala274Thr) rs878854557 0.00001
NM_002691.4(POLD1):c.866A>G (p.Asp289Gly) rs878854558 0.00001
NM_002691.4(POLD1):c.965G>A (p.Arg322His) rs980303681 0.00001
NM_006231.4(POLE):c.1041G>T (p.Trp347Cys) rs1048183984 0.00001
NM_006231.4(POLE):c.109C>T (p.Arg37Trp) rs753101641 0.00001
NM_006231.4(POLE):c.1760A>G (p.Lys587Arg) rs750826256 0.00001
NM_006231.4(POLE):c.198G>A (p.Met66Ile) rs764962999 0.00001
NM_006231.4(POLE):c.2020G>A (p.Glu674Lys) rs779458859 0.00001
NM_006231.4(POLE):c.2113C>T (p.Arg705Trp) rs200621883 0.00001
NM_006231.4(POLE):c.2182C>T (p.Arg728Trp) rs1020252487 0.00001
NM_006231.4(POLE):c.218A>G (p.Asp73Gly) rs1060500786 0.00001
NM_006231.4(POLE):c.2225G>A (p.Arg742His) rs116360781 0.00001
NM_006231.4(POLE):c.266A>C (p.Asp89Ala) rs756843283 0.00001
NM_006231.4(POLE):c.3612T>G (p.Ser1204Arg) rs773580533 0.00001
NM_006231.4(POLE):c.3850C>T (p.Arg1284Trp) rs753426630 0.00001
NM_006231.4(POLE):c.4172C>G (p.Ser1391Cys) rs149145495 0.00001
NM_006231.4(POLE):c.4276G>A (p.Val1426Ile) rs775072147 0.00001
NM_006231.4(POLE):c.5035C>T (p.Arg1679Cys) rs768244569 0.00001
NM_006231.4(POLE):c.5866G>A (p.Glu1956Lys) rs749992643 0.00001
NM_006231.4(POLE):c.6073G>A (p.Val2025Met) rs995579204 0.00001
NM_006231.4(POLE):c.6628A>C (p.Lys2210Gln) rs1284697545 0.00001
NM_006231.4(POLE):c.6734C>G (p.Thr2245Ser) rs747676884 0.00001
NM_006231.4(POLE):c.68A>G (p.Asp23Gly) rs765898876 0.00001
NM_000038.6(APC):c.1333C>G (p.Gln445Glu) rs876658802
NM_000038.6(APC):c.2160G>A (p.Met720Ile) rs1283428855
NM_000038.6(APC):c.2573T>C (p.Ile858Thr) rs1765215022
NM_000038.6(APC):c.3263A>C (p.Lys1088Thr) rs1580633119
NM_000038.6(APC):c.3365A>G (p.Asn1122Ser) rs372855304
NM_000038.6(APC):c.3490A>G (p.Ile1164Val) rs1554085052
NM_000038.6(APC):c.4332A>T (p.Gln1444His) rs748342378
NM_000038.6(APC):c.4847A>T (p.Lys1616Ile) rs1554086241
NM_000038.6(APC):c.4987G>A (p.Glu1663Lys) rs758987855
NM_000038.6(APC):c.5011G>A (p.Ala1671Thr) rs587781600
NM_000038.6(APC):c.6218G>A (p.Gly2073Asp) rs1766164614
NM_000038.6(APC):c.6257C>G (p.Pro2086Arg) rs786202975
NM_000038.6(APC):c.6727A>G (p.Thr2243Ala) rs773539706
NM_000038.6(APC):c.7097A>G (p.Tyr2366Cys) rs1561612604
NM_000038.6(APC):c.7757G>T (p.Ser2586Ile) rs199806334
NM_000038.6(APC):c.7946C>T (p.Pro2649Leu) rs1766608503
NM_000038.6(APC):c.813G>A (p.Met271Ile) rs1064793903
NM_000038.6(APC):c.8281C>T (p.Pro2761Ser) rs1060503332
NM_001048174.2(MUTYH):c.1031C>T (p.Ser344Phe) rs763862261
NM_001048174.2(MUTYH):c.1331G>T (p.Gly444Val) rs1553125016
NM_001048174.2(MUTYH):c.133G>A (p.Glu45Lys) rs1064794128
NM_001048174.2(MUTYH):c.20C>T (p.Ala7Val) rs1057517460
NM_001048174.2(MUTYH):c.424G>A (p.Val142Met) rs786203212
NM_001048174.2(MUTYH):c.487C>G (p.Arg163Gly) rs761101420
NM_001048174.2(MUTYH):c.953C>G (p.Ser318Trp) rs587778538
NM_001127511.3(APC):c.-128G>C rs543098847
NM_001127511.3(APC):c.-142G>A rs951500465
NM_002528.7(NTHL1):c.614C>A (p.Ala205Glu) rs748719278
NM_002691.4(POLD1):c.1294C>G (p.Arg432Gly) rs774130423
NM_002691.4(POLD1):c.1366C>G (p.Gln456Glu) rs878854520
NM_002691.4(POLD1):c.208G>T (p.Val70Phe) rs147911699
NM_002691.4(POLD1):c.223A>G (p.Ile75Val) rs940296193
NM_002691.4(POLD1):c.2959dup rs756872503
NM_002691.4(POLD1):c.3298G>A (p.Gly1100Arg) rs1060501837
NM_002691.4(POLD1):c.343C>T (p.Pro115Ser) rs754917939
NM_002691.4(POLD1):c.364G>A (p.Val122Met) rs141579552
NM_002691.4(POLD1):c.652C>T (p.Arg218Cys) rs1295943468
NM_006231.4(POLE):c.1772A>G (p.Glu591Gly) rs1555228119
NM_006231.4(POLE):c.1784A>G (p.Asn595Ser) rs969500436
NM_006231.4(POLE):c.1802A>T (p.Asp601Val) rs2042862564
NM_006231.4(POLE):c.1915C>T (p.Arg639Cys) rs1565966539
NM_006231.4(POLE):c.1A>G (p.Met1Val) rs878854847
NM_006231.4(POLE):c.2090C>T (p.Pro697Leu) rs36120395
NM_006231.4(POLE):c.2359G>A (p.Asp787Asn) rs878854851
NM_006231.4(POLE):c.2362G>A (p.Ala788Thr) rs896350761
NM_006231.4(POLE):c.2384A>G (p.Lys795Arg) rs867677414
NM_006231.4(POLE):c.2465_2467dup (p.Lys822_Gly823insGlu) rs1237046519
NM_006231.4(POLE):c.3652G>A (p.Val1218Ile) rs756246229
NM_006231.4(POLE):c.3670_3671delinsTT (p.Ala1224Leu) rs864622698
NM_006231.4(POLE):c.4510A>T (p.Ile1504Phe) rs1555222899
NM_006231.4(POLE):c.4513C>G (p.Pro1505Ala) rs878854873
NM_006231.4(POLE):c.4522C>G (p.Arg1508Gly) rs766511597
NM_006231.4(POLE):c.4802C>T (p.Pro1601Leu) rs1593731286
NM_006231.4(POLE):c.4888C>T (p.Arg1630Trp) rs148076304
NM_006231.4(POLE):c.5525ACA[1] (p.Asn1843del) rs868246375
NM_006231.4(POLE):c.575C>T (p.Ser192Phe) rs1060500891
NM_006231.4(POLE):c.6483dup (p.Asn2162Ter) rs2041834385
NM_006231.4(POLE):c.73G>T (p.Ala25Ser) rs773204331
NM_006231.4(POLE):c.955G>A (p.Asp319Asn) rs116162724

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