ClinVar Miner

List of variants reported as uncertain significance for colorectal cancer by Mendelics

Included ClinVar conditions (75):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 255
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HGVS dbSNP gnomAD frequency
NM_000535.7(PMS2):c.2523G>A (p.Trp841Ter) rs587780057 0.00174
NM_006231.4(POLE):c.139C>T (p.Arg47Trp) rs143626223 0.00082
NM_006231.4(POLE):c.3046G>A (p.Val1016Met) rs147692158 0.00065
NM_000249.4(MLH1):c.1039-7_1040del rs1559551447 0.00061
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala) rs146176004 0.00059
NM_006231.4(POLE):c.1337G>A (p.Arg446Gln) rs151273553 0.00046
NM_006231.4(POLE):c.2171C>T (p.Ala724Val) rs61734163 0.00040
NM_000179.3(MSH6):c.1932G>C (p.Arg644Ser) rs34938432 0.00037
NM_006231.4(POLE):c.2602C>T (p.Leu868=) rs115830215 0.00035
NM_006231.4(POLE):c.1534G>A (p.Ala512Thr) rs113998091 0.00034
NM_000251.3(MSH2):c.435T>G (p.Ile145Met) rs63750124 0.00031
NM_000535.7(PMS2):c.572A>G (p.Tyr191Cys) rs375289386 0.00029
NM_002691.4(POLD1):c.961G>A (p.Gly321Ser) rs41554817 0.00029
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser) rs41295288 0.00022
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys) rs139438201 0.00022
NM_006231.4(POLE):c.1645T>C (p.Ser549Pro) rs115558715 0.00020
NM_000179.3(MSH6):c.3961A>G (p.Arg1321Gly) rs41295278 0.00019
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met) rs587780046 0.00017
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr) rs201343342 0.00016
NM_000179.3(MSH6):c.884A>G (p.Lys295Arg) rs267608051 0.00014
NM_000179.3(MSH6):c.650A>G (p.Asp217Gly) rs554012110 0.00013
NM_000179.3(MSH6):c.628-7C>A rs373129248 0.00011
NM_000249.4(MLH1):c.626A>G (p.Asn209Ser) rs150478207 0.00011
NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys) rs17217723 0.00011
NM_000251.3(MSH2):c.1790A>C (p.Asp597Ala) rs548407418 0.00011
NM_000251.3(MSH2):c.2203A>G (p.Ile735Val) rs2229061 0.00011
NM_000251.3(MSH2):c.2785C>T (p.Arg929Ter) rs551060742 0.00011
NM_000535.7(PMS2):c.1555T>C (p.Tyr519His) rs370236216 0.00011
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly) rs116788608 0.00011
NM_002691.4(POLD1):c.521G>A (p.Arg174Gln) rs141976385 0.00011
NM_006231.4(POLE):c.940T>G (p.Ser314Ala) rs770403791 0.00011
NM_000179.3(MSH6):c.1729C>T (p.Arg577Cys) rs542838372 0.00010
NM_000179.3(MSH6):c.3245C>T (p.Pro1082Leu) rs191109849 0.00010
NM_000535.7(PMS2):c.714C>A (p.Ser238Arg) rs151251082 0.00010
NM_002691.4(POLD1):c.2987C>T (p.Thr996Met) rs918661445 0.00010
NM_000179.3(MSH6):c.1730G>A (p.Arg577His) rs376220212 0.00009
NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser) rs147453999 0.00009
NM_000249.4(MLH1):c.1709A>G (p.Asn570Ser) rs375853155 0.00009
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp) rs199739859 0.00008
NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala) rs267607939 0.00007
NM_000179.3(MSH6):c.1814C>G (p.Thr605Ser) rs587781616 0.00006
NM_000249.4(MLH1):c.1013A>G (p.Asn338Ser) rs63751467 0.00006
NM_000249.4(MLH1):c.453G>A (p.Thr151=) rs369521379 0.00006
NM_000251.3(MSH2):c.382C>G (p.Leu128Val) rs145649774 0.00006
NM_006231.4(POLE):c.1288G>A (p.Ala430Thr) rs140566004 0.00006
NM_000179.3(MSH6):c.1844G>C (p.Cys615Ser) rs730881793 0.00005
NM_000179.3(MSH6):c.2347T>A (p.Cys783Ser) rs373721483 0.00005
NM_000249.4(MLH1):c.1154G>A (p.Arg385His) rs63750430 0.00005
NM_000535.7(PMS2):c.1432A>G (p.Ser478Gly) rs144389038 0.00005
NM_006231.4(POLE):c.2645A>G (p.Asn882Ser) rs539312991 0.00005
NM_006231.4(POLE):c.6668A>G (p.Lys2223Arg) rs367970442 0.00005
NM_000179.3(MSH6):c.1661G>A (p.Arg554His) rs730881791 0.00004
NM_000179.3(MSH6):c.2408A>G (p.Asp803Gly) rs63751450 0.00004
NM_000179.3(MSH6):c.4004A>C (p.Glu1335Ala) rs564434147 0.00004
NM_000249.4(MLH1):c.1270G>A (p.Ala424Thr) rs377433038 0.00004
NM_000249.4(MLH1):c.1565G>A (p.Arg522Gln) rs63751630 0.00004
NM_000251.3(MSH2):c.2516A>G (p.His839Arg) rs63750027 0.00004
NM_000535.7(PMS2):c.1211C>G (p.Pro404Arg) rs536111818 0.00004
NM_000535.7(PMS2):c.2347G>A (p.Val783Ile) rs553286217 0.00004
NM_000535.7(PMS2):c.475G>A (p.Val159Met) rs142416537 0.00004
NM_006231.4(POLE):c.4343A>G (p.Asn1448Ser) rs150545516 0.00004
NM_006231.4(POLE):c.6445C>T (p.Arg2149Cys) rs771490182 0.00004
NM_000179.3(MSH6):c.1696G>A (p.Gly566Arg) rs63749973 0.00003
NM_000179.3(MSH6):c.2161A>G (p.Arg721Gly) rs537604099 0.00003
NM_000179.3(MSH6):c.3100C>T (p.Arg1034Trp) rs587779930 0.00003
NM_000179.3(MSH6):c.359T>C (p.Ile120Thr) rs775971872 0.00003
NM_000179.3(MSH6):c.532C>T (p.Arg178Cys) rs730881813 0.00003
NM_000249.4(MLH1):c.1514G>A (p.Ser505Asn) rs771044689 0.00003
NM_000249.4(MLH1):c.191A>G (p.Asn64Ser) rs63750952 0.00003
NM_000249.4(MLH1):c.644A>G (p.Asn215Ser) rs267607775 0.00003
NM_000249.4(MLH1):c.94A>G (p.Ile32Val) rs2020872 0.00003
NM_000251.3(MSH2):c.14C>A (p.Pro5Gln) rs56170584 0.00003
NM_000251.3(MSH2):c.157G>T (p.Ala53Ser) rs755931648 0.00003
NM_000251.3(MSH2):c.1724A>G (p.Asp575Gly) rs370330868 0.00003
NM_000251.3(MSH2):c.1847C>G (p.Pro616Arg) rs587779965 0.00003
NM_000535.7(PMS2):c.917T>C (p.Val306Ala) rs786201878 0.00003
NM_022055.2(KCNK12):c.*8525G>C rs758564047 0.00003
NM_182925.5(FLT4):c.2104G>T (p.Ala702Ser) rs746659265 0.00003
NM_000179.3(MSH6):c.3851C>T (p.Thr1284Met) rs63750836 0.00002
NM_000251.3(MSH2):c.2717T>C (p.Ile906Thr) rs587780687 0.00002
NM_000251.3(MSH2):c.80C>T (p.Pro27Leu) rs750746034 0.00002
NM_000535.7(PMS2):c.113C>T (p.Ala38Val) rs148270248 0.00002
NM_000535.7(PMS2):c.2264T>C (p.Ile755Thr) rs386833410 0.00002
NM_002691.4(POLD1):c.3157C>T (p.Arg1053Cys) rs779208942 0.00002
NM_006231.4(POLE):c.1717C>T (p.Arg573Trp) rs373000452 0.00002
NM_006231.4(POLE):c.2099C>T (p.Pro700Leu) rs777002868 0.00002
NM_006231.4(POLE):c.2209A>G (p.Thr737Ala) rs779102091 0.00002
NM_000179.3(MSH6):c.1127A>G (p.Glu376Gly) rs764150912 0.00001
NM_000179.3(MSH6):c.1190A>G (p.Tyr397Cys) rs63750065 0.00001
NM_000179.3(MSH6):c.2107A>G (p.Met703Val) rs751867550 0.00001
NM_000179.3(MSH6):c.2419G>A (p.Glu807Lys) rs587779923 0.00001
NM_000179.3(MSH6):c.2629G>A (p.Glu877Lys) rs730881797 0.00001
NM_000179.3(MSH6):c.2640_2641insAAA (p.Asp880_Gly881insLys) rs1252374906 0.00001
NM_000179.3(MSH6):c.2693C>G (p.Pro898Arg) rs876661281 0.00001
NM_000179.3(MSH6):c.3452C>G (p.Ala1151Gly) rs587782625 0.00001
NM_000179.3(MSH6):c.3598A>G (p.Ile1200Val) rs781627838 0.00001
NM_000179.3(MSH6):c.3841G>C (p.Glu1281Gln) rs876659115 0.00001
NM_000179.3(MSH6):c.3847A>G (p.Ile1283Val) rs144714869 0.00001
NM_000179.3(MSH6):c.4002-4T>C rs370428032 0.00001
NM_000179.3(MSH6):c.533G>A (p.Arg178His) rs786204186 0.00001
NM_000179.3(MSH6):c.998C>T (p.Thr333Ile) rs587781983 0.00001
NM_000249.4(MLH1):c.1216A>G (p.Ser406Gly) rs864622687 0.00001
NM_000249.4(MLH1):c.1344G>T (p.Glu448Asp) rs587779952 0.00001
NM_000249.4(MLH1):c.1541A>G (p.Asn514Ser) rs772245091 0.00001
NM_000249.4(MLH1):c.1876T>C (p.Phe626Leu) rs377241633 0.00001
NM_000249.4(MLH1):c.2107G>A (p.Glu703Lys) rs747727493 0.00001
NM_000249.4(MLH1):c.5C>T (p.Ser2Leu) rs587779029 0.00001
NM_000249.4(MLH1):c.652T>C (p.Ser218Pro) rs750650349 0.00001
NM_000249.4(MLH1):c.743A>G (p.Asn248Ser) rs587782800 0.00001
NM_000251.3(MSH2):c.1462T>G (p.Leu488Val) rs587781314 0.00001
NM_000251.3(MSH2):c.1489A>G (p.Ile497Val) rs755501968 0.00001
NM_000251.3(MSH2):c.1571G>A (p.Arg524His) rs63751207 0.00001
NM_000251.3(MSH2):c.1967A>G (p.Tyr656Cys) rs185356145 0.00001
NM_000251.3(MSH2):c.2039G>A (p.Arg680Gln) rs1203462814 0.00001
NM_000251.3(MSH2):c.2064G>A (p.Met688Ile) rs63750790 0.00001
NM_000251.3(MSH2):c.2111T>C (p.Ile704Thr) rs564657106 0.00001
NM_000251.3(MSH2):c.2437A>G (p.Met813Val) rs63749841 0.00001
NM_000251.3(MSH2):c.2606C>A (p.Ala869Glu) rs730881772 0.00001
NM_000251.3(MSH2):c.274C>G (p.Leu92Val) rs587779154 0.00001
NM_000251.3(MSH2):c.386C>G (p.Ser129Cys) rs587779972 0.00001
NM_000251.3(MSH2):c.716A>G (p.Gln239Arg) rs199676483 0.00001
NM_000251.3(MSH2):c.992A>G (p.Asn331Ser) rs779673318 0.00001
NM_000535.7(PMS2):c.2062A>G (p.Ile688Val) rs1060503144 0.00001
NM_000535.7(PMS2):c.2405G>A (p.Arg802Gln) rs1060503143 0.00001
NM_000535.7(PMS2):c.451C>T (p.Arg151Cys) rs758561884 0.00001
NM_000535.7(PMS2):c.825A>T (p.Gln275His) rs876659736 0.00001
NM_000535.7(PMS2):c.881G>A (p.Arg294Gln) rs373239341 0.00001
NM_000535.7(PMS2):c.983A>G (p.Asp328Gly) rs587782852 0.00001
NM_002691.4(POLD1):c.674G>A (p.Arg225His) rs144979965 0.00001
NM_006231.4(POLE):c.1741G>T (p.Ala581Ser) rs755090755 0.00001
NM_006231.4(POLE):c.3722A>C (p.Glu1241Ala) rs755166232 0.00001
NM_006231.4(POLE):c.3865C>T (p.Arg1289Cys) rs770036124 0.00001
NM_006231.4(POLE):c.5312C>T (p.Thr1771Met) rs777695766 0.00001
NM_006231.4(POLE):c.5398G>A (p.Val1800Met) rs199777048 0.00001
NM_006231.4(POLE):c.5429A>T (p.His1810Leu) rs777390504 0.00001
NM_006231.4(POLE):c.5575C>G (p.Leu1859Val) rs184253572 0.00001
NM_006231.4(POLE):c.6433C>T (p.Arg2145Ter) rs1451513451 0.00001
NM_000179.3(MSH6):c.1048G>A (p.Ala350Thr)
NM_000179.3(MSH6):c.1120A>G (p.Lys374Glu) rs1558660575
NM_000179.3(MSH6):c.1321C>G (p.Leu441Val) rs1553412749
NM_000179.3(MSH6):c.1406A>G (p.Tyr469Cys) rs748165218
NM_000179.3(MSH6):c.1508C>T (p.Ser503Phe) rs63750897
NM_000179.3(MSH6):c.1651G>A (p.Gly551Ser) rs1558662449
NM_000179.3(MSH6):c.175C>A (p.Pro59Thr) rs761033647
NM_000179.3(MSH6):c.2180C>T (p.Thr727Ile) rs767861096
NM_000179.3(MSH6):c.2298T>G (p.His766Gln) rs768535330
NM_000179.3(MSH6):c.2479A>G (p.Asn827Asp) rs878853716
NM_000179.3(MSH6):c.2480A>C (p.Asn827Thr) rs1558665569
NM_000179.3(MSH6):c.253C>T (p.Pro85Ser) rs779664343
NM_000179.3(MSH6):c.2732G>A (p.Arg911Gln) rs761622304
NM_000179.3(MSH6):c.2752C>T (p.His918Tyr) rs1558666591
NM_000179.3(MSH6):c.275C>T (p.Pro92Leu) rs1257646433
NM_000179.3(MSH6):c.2963G>T (p.Arg988Leu) rs115386788
NM_000179.3(MSH6):c.3019T>C (p.Trp1007Arg) rs1553414398
NM_000179.3(MSH6):c.3260C>G (p.Pro1087Arg) rs63750753
NM_000179.3(MSH6):c.3270G>C (p.Glu1090Asp) rs876660165
NM_000179.3(MSH6):c.3307T>G (p.Phe1103Val) rs1553331522
NM_000179.3(MSH6):c.3314G>T (p.Gly1105Val) rs1060502910
NM_000179.3(MSH6):c.34C>A (p.Pro12Thr) rs587782084
NM_000179.3(MSH6):c.3524C>G (p.Thr1175Ser) rs369583604
NM_000179.3(MSH6):c.3613_3615dup (p.Thr1205dup) rs1558390840
NM_000179.3(MSH6):c.3904G>A (p.Ala1302Thr) rs1553333561
NM_000179.3(MSH6):c.3971AGA[1] (p.Lys1325del) rs587779300
NM_000179.3(MSH6):c.3992G>A (p.Arg1331Gln) rs184131049
NM_000179.3(MSH6):c.4001+42_4001+44dup rs926031657
NM_000179.3(MSH6):c.4022_4077dup (p.Leu1360delinsLysGlyGlnLeuTer) rs1553334006
NM_000179.3(MSH6):c.4034_4042del (p.Val1345_Ala1347del) rs864622703
NM_000179.3(MSH6):c.545C>G (p.Ala182Gly) rs876659786
NM_000179.3(MSH6):c.627+26_627+37del rs1558656848
NM_000179.3(MSH6):c.838A>G (p.Ser280Gly) rs1558659442
NM_000179.3(MSH6):c.905G>C (p.Arg302Thr) rs587781510
NM_000179.3(MSH6):c.923G>C (p.Gly308Ala) rs1553412354
NM_000249.4(MLH1):c.1038+4A>C rs1251478879
NM_000249.4(MLH1):c.1117G>A (p.Gly373Arg) rs766904735
NM_000249.4(MLH1):c.1253A>G (p.Asp418Gly) rs754898711
NM_000249.4(MLH1):c.1420C>G (p.Arg474Gly) rs147939838
NM_000249.4(MLH1):c.1453G>T (p.Asp485Tyr) rs63750314
NM_000249.4(MLH1):c.1500_1502del (p.Ile501del) rs587778920
NM_000249.4(MLH1):c.1615G>T (p.Ala539Ser) rs1559575256
NM_000249.4(MLH1):c.1791G>T (p.Trp597Cys) rs1416171624
NM_000249.4(MLH1):c.186A>G (p.Gln62=) rs1559506261
NM_000249.4(MLH1):c.204C>G (p.Ile68Met) rs780141938
NM_000249.4(MLH1):c.306+6C>T rs746641892
NM_000249.4(MLH1):c.588+5G>C rs267607768
NM_000249.4(MLH1):c.946_954del (p.Phe316_His318del) rs1575509703
NM_000251.3(MSH2):c.1286A>C (p.Gln429Pro) rs1558493372
NM_000251.3(MSH2):c.1307T>C (p.Phe436Ser) rs1573519324
NM_000251.3(MSH2):c.1327C>A (p.Leu443Ile) rs876659906
NM_000251.3(MSH2):c.1331G>A (p.Arg444His) rs557339938
NM_000251.3(MSH2):c.1547G>A (p.Ser516Asn) rs373564353
NM_000251.3(MSH2):c.1595T>C (p.Val532Ala) rs754778750
NM_000251.3(MSH2):c.1813G>A (p.Val605Ile) rs730881777
NM_000251.3(MSH2):c.1A>G (p.Met1Val) rs267607911
NM_000251.3(MSH2):c.2008C>T (p.Pro670Ser) rs1558519495
NM_000251.3(MSH2):c.2009C>A (p.Pro670His) rs41294982
NM_000251.3(MSH2):c.2012A>G (p.Asn671Ser) rs1558519505
NM_000251.3(MSH2):c.212-1G>T rs267607914
NM_000251.3(MSH2):c.212-3_213del rs1573436131
NM_000251.3(MSH2):c.2243A>T (p.Asp748Val) rs1558521518
NM_000251.3(MSH2):c.2393A>G (p.Asn798Ser) rs786204073
NM_000251.3(MSH2):c.2417C>T (p.Thr806Ile) rs758889557
NM_000251.3(MSH2):c.2459-12A>G rs267608012
NM_000251.3(MSH2):c.2459G>A (p.Gly820Asp) rs794729229
NM_000251.3(MSH2):c.2533A>G (p.Lys845Glu) rs63750571
NM_000251.3(MSH2):c.2766T>G (p.Phe922Leu) rs55859129
NM_000251.3(MSH2):c.507A>G (p.Ile169Met) rs748762580
NM_000251.3(MSH2):c.64T>A (p.Phe22Ile) rs1189127007
NM_000251.3(MSH2):c.698C>T (p.Ser233Phe) rs587781724
NM_000251.3(MSH2):c.961A>G (p.Thr321Ala) rs587781550
NM_000251.3(MSH2):c.97A>G (p.Thr33Ala) rs63751107
NM_000535.7(PMS2):c.1171G>C (p.Asp391His) rs1064795020
NM_000535.7(PMS2):c.1180A>G (p.Lys394Glu) rs1583323711
NM_000535.7(PMS2):c.1219A>G (p.Arg407Gly) rs776725795
NM_000535.7(PMS2):c.1271T>C (p.Phe424Ser) rs876661186
NM_000535.7(PMS2):c.1354G>C (p.Gly452Arg) rs569947936
NM_000535.7(PMS2):c.1473G>C (p.Glu491Asp) rs530105089
NM_000535.7(PMS2):c.1511A>G (p.Glu504Gly) rs1254121331
NM_000535.7(PMS2):c.1534G>A (p.Gly512Ser) rs1060503127
NM_000535.7(PMS2):c.1564A>G (p.Ser522Gly) rs1554297553
NM_000535.7(PMS2):c.1593_1610dup (p.His532_Glu537dup) rs587780043
NM_000535.7(PMS2):c.1633T>C (p.Ser545Pro) rs1247571278
NM_000535.7(PMS2):c.1700A>G (p.Gln567Arg) rs112104877
NM_000535.7(PMS2):c.1759A>C (p.Ser587Arg) rs1554297277
NM_000535.7(PMS2):c.194T>G (p.Leu65Arg) rs749141001
NM_000535.7(PMS2):c.2167C>G (p.Leu723Val) rs1456057054
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs) rs587779335
NM_000535.7(PMS2):c.2502G>T (p.Met834Ile) rs1554292818
NM_000535.7(PMS2):c.439A>C (p.Thr147Pro) rs1583403496
NM_000535.7(PMS2):c.446A>C (p.Tyr149Ser) rs1554304003
NM_000535.7(PMS2):c.552G>T (p.Met184Ile) rs764853641
NM_000535.7(PMS2):c.708G>T (p.Leu236Phe) rs201395630
NM_000535.7(PMS2):c.948C>A (p.His316Gln) rs1219573982
NM_000535.7(PMS2):c.989-3T>C rs1156325177
NM_001190274.2(FBXO11):c.*906G>T rs1572751620
NM_001190274.2(FBXO11):c.1076A>G (p.Asn359Ser) rs1572806551
NM_002691.4(POLD1):c.1109G>T (p.Ser370Ile) rs868850526
NM_002691.4(POLD1):c.1687-2A>G rs1568628299
NM_002691.4(POLD1):c.189G>T (p.Glu63Asp) rs776773005
NM_002691.4(POLD1):c.208G>T (p.Val70Phe) rs147911699
NM_002691.4(POLD1):c.2449C>G (p.Arg817Gly) rs148176230
NM_002691.4(POLD1):c.2874G>A (p.Leu958=) rs1568639764
NM_002691.4(POLD1):c.3293G>T (p.Arg1098Leu) rs878854552
NM_006231.4(POLE):c.2089C>A (p.Pro697Thr) rs5744800
NM_006231.4(POLE):c.3539AGA[2] (p.Lys1182del) rs1555225139
NM_006231.4(POLE):c.3715C>G (p.Gln1239Glu) rs1565946576
NM_006231.4(POLE):c.4476C>G (p.His1492Gln) rs5744943
NM_006231.4(POLE):c.4522C>G (p.Arg1508Gly) rs766511597
NM_006231.4(POLE):c.4754T>A (p.Ile1585Asn) rs1565937957
NM_006231.4(POLE):c.4945A>G (p.Met1649Val) rs1565937350
NM_006231.4(POLE):c.5288A>G (p.Gln1763Arg) rs1565935906
NM_006231.4(POLE):c.5573G>A (p.Arg1858His) rs1445288473
NM_006231.4(POLE):c.5647G>A (p.Ala1883Thr) rs1565931961
NM_006231.4(POLE):c.5883GGA[3] (p.Glu1966del) rs757774039
NM_006231.4(POLE):c.6581A>G (p.Tyr2194Cys) rs1060500872
NM_006231.4(POLE):c.6747+5G>A rs1555300791

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