ClinVar Miner

List of variants reported as uncertain significance for colorectal neoplasm by Counsyl

Included ClinVar conditions (84):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 474
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HGVS dbSNP gnomAD frequency
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn) rs143340522 0.00192
NM_000251.1(MSH2):c.-179C>T rs17224094 0.00159
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325 0.00072
NM_000251.3(MSH2):c.55T>C (p.Phe19Leu) rs141711342 0.00063
NM_000179.3(MSH6):c.2667G>T (p.Gln889His) rs149945495 0.00048
NM_000251.3(MSH2):c.815C>T (p.Ala272Val) rs34136999 0.00046
NM_000179.3(MSH6):c.491A>C (p.His164Pro) rs146469162 0.00045
NM_000535.7(PMS2):c.936G>A (p.Met312Ile) rs139194813 0.00041
NM_000179.3(MSH6):c.1932G>C (p.Arg644Ser) rs34938432 0.00037
NM_000179.3(MSH6):c.1867C>G (p.Pro623Ala) rs3136334 0.00033
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_000535.7(PMS2):c.1567T>A (p.Ser523Thr) rs63751132 0.00021
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln) rs63750361 0.00020
NM_000179.3(MSH6):c.3961A>G (p.Arg1321Gly) rs41295278 0.00019
NM_000249.4(MLH1):c.65G>C (p.Gly22Ala) rs41295280 0.00016
NM_000535.7(PMS2):c.2108C>T (p.Thr703Met) rs370196722 0.00016
NM_000251.3(MSH2):c.2537A>G (p.Gln846Arg) rs140754514 0.00015
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu) rs61748083 0.00014
NM_000179.3(MSH6):c.884A>G (p.Lys295Arg) rs267608051 0.00014
NM_000251.3(MSH2):c.766G>A (p.Ala256Thr) rs377403073 0.00014
NM_000179.3(MSH6):c.187T>C (p.Ser63Pro) rs763702846 0.00013
NM_000179.3(MSH6):c.59C>T (p.Ala20Val) rs63750664 0.00013
NM_000179.3(MSH6):c.650A>G (p.Asp217Gly) rs554012110 0.00013
NM_000251.3(MSH2):c.-3G>C rs587779960 0.00013
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys) rs63750649 0.00013
NM_000535.7(PMS2):c.595C>T (p.Arg199Cys) rs372297364 0.00012
NM_000179.3(MSH6):c.124C>T (p.Pro42Ser) rs34014629 0.00011
NM_000179.3(MSH6):c.3674C>T (p.Thr1225Met) rs63750370 0.00011
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.1461C>G (p.Asp487Glu) rs35107951 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.2308A>G (p.Ile770Val) rs63750684 0.00011
NM_000251.3(MSH2):c.2785C>T (p.Arg929Ter) rs551060742 0.00011
NM_000251.3(MSH2):c.557A>G (p.Asn186Ser) rs151129360 0.00011
NM_000535.7(PMS2):c.1559C>T (p.Ala520Val) rs63751300 0.00011
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly) rs116788608 0.00011
NM_000179.3(MSH6):c.1729C>T (p.Arg577Cys) rs542838372 0.00010
NM_000179.3(MSH6):c.2417C>G (p.Ser806Cys) rs372990379 0.00010
NM_000179.3(MSH6):c.3788G>A (p.Arg1263His) rs147852216 0.00010
NM_000249.4(MLH1):c.1964T>C (p.Ile655Thr) rs63751225 0.00010
NM_000251.3(MSH2):c.-181G>A rs786201698 0.00010
NM_000535.7(PMS2):c.714C>A (p.Ser238Arg) rs151251082 0.00010
NM_000535.7(PMS2):c.823C>G (p.Gln275Glu) rs587780062 0.00010
NM_000179.3(MSH6):c.1063G>A (p.Gly355Ser) rs587778531 0.00009
NM_000179.3(MSH6):c.1730G>A (p.Arg577His) rs376220212 0.00009
NM_000179.3(MSH6):c.3439-10T>A rs730881819 0.00009
NM_000249.3(MLH1):c.-42C>T rs41285097 0.00009
NM_000249.4(MLH1):c.1709A>G (p.Asn570Ser) rs375853155 0.00009
NM_000251.3(MSH2):c.114C>G (p.Asp38Glu) rs587779074 0.00009
NM_000251.3(MSH2):c.1276+11A>G rs189015988 0.00009
NM_000251.3(MSH2):c.97A>C (p.Thr33Pro) rs63751107 0.00009
NM_000535.7(PMS2):c.1714G>A (p.Ala572Thr) rs63751023 0.00009
NM_000179.3(MSH6):c.2281A>G (p.Arg761Gly) rs199876321 0.00008
NM_000249.4(MLH1):c.1558+5G>A rs199935667 0.00008
NM_000251.3(MSH2):c.1217G>A (p.Arg406Gln) rs146567853 0.00008
NM_000251.3(MSH2):c.4G>A (p.Ala2Thr) rs63750466 0.00008
NM_000251.3(MSH2):c.820A>G (p.Ile274Val) rs371944271 0.00008
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp) rs199739859 0.00008
NM_000535.7(PMS2):c.877A>G (p.Asn293Asp) rs530993704 0.00008
NM_000179.3(MSH6):c.2384T>C (p.Ile795Thr) rs202127474 0.00007
NM_000249.4(MLH1):c.2038T>G (p.Cys680Gly) rs63750809 0.00007
NM_000249.4(MLH1):c.2213G>A (p.Gly738Glu) rs148317871 0.00007
NM_000249.4(MLH1):c.277A>G (p.Ser93Gly) rs41295282 0.00007
NM_000251.3(MSH2):c.2732T>G (p.Leu911Arg) rs41295182 0.00007
NM_000535.7(PMS2):c.1717A>T (p.Thr573Ser) rs63751211 0.00007
NM_000179.3(MSH6):c.2906A>T (p.Tyr969Phe) rs63749919 0.00006
NM_000179.3(MSH6):c.3283C>T (p.Arg1095Cys) rs376243329 0.00006
NM_000179.3(MSH6):c.3478G>A (p.Val1160Ile) rs376799914 0.00006
NM_000179.3(MSH6):c.3824G>A (p.Cys1275Tyr) rs150990541 0.00006
NM_000179.3(MSH6):c.4000C>T (p.Arg1334Trp) rs773763465 0.00006
NM_000179.3(MSH6):c.643G>A (p.Val215Ile) rs145959653 0.00006
NM_000179.3(MSH6):c.831A>C (p.Glu277Asp) rs374486449 0.00006
NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg) rs63750527 0.00006
NM_000249.4(MLH1):c.955G>A (p.Glu319Lys) rs63750796 0.00006
NM_000251.1(MSH2):c.-182C>T rs876658327 0.00006
NM_000251.3(MSH2):c.2503A>C (p.Asn835His) rs41295296 0.00006
NM_000535.7(PMS2):c.1379G>A (p.Gly460Asp) rs150201462 0.00006
NM_000535.7(PMS2):c.1394A>G (p.Lys465Arg) rs141084758 0.00006
NM_000535.7(PMS2):c.353+6A>G rs376449640 0.00006
NM_000535.7(PMS2):c.632G>A (p.Arg211Gln) rs587781934 0.00006
NM_000535.7(PMS2):c.944G>A (p.Arg315Gln) rs116314131 0.00006
NM_000179.3(MSH6):c.1746T>G (p.Phe582Leu) rs201518545 0.00005
NM_000179.3(MSH6):c.1844G>C (p.Cys615Ser) rs730881793 0.00005
NM_000179.3(MSH6):c.3762A>T (p.Glu1254Asp) rs375459388 0.00005
NM_000249.4(MLH1):c.1154G>A (p.Arg385His) rs63750430 0.00005
NM_000249.4(MLH1):c.1937A>G (p.Tyr646Cys) rs35045067 0.00005
NM_000249.4(MLH1):c.438A>G (p.Gln146=) rs377279035 0.00005
NM_000249.4(MLH1):c.80G>A (p.Arg27Gln) rs138705565 0.00005
NM_000251.3(MSH2):c.1774A>G (p.Met592Val) rs371614039 0.00005
NM_000251.3(MSH2):c.885C>G (p.Asp295Glu) rs201334592 0.00005
NM_000535.7(PMS2):c.682G>A (p.Gly228Ser) rs376258383 0.00005
NM_000179.3(MSH6):c.107C>T (p.Ala36Val) rs61756469 0.00004
NM_000179.3(MSH6):c.1144C>T (p.His382Tyr) rs587779207 0.00004
NM_000179.3(MSH6):c.1364A>C (p.Asn455Thr) rs200938360 0.00004
NM_000179.3(MSH6):c.2408A>G (p.Asp803Gly) rs63751450 0.00004
NM_000179.3(MSH6):c.242C>T (p.Ala81Val) rs587779924 0.00004
NM_000179.3(MSH6):c.2597A>C (p.Lys866Thr) rs190075874 0.00004
NM_000179.3(MSH6):c.3232G>C (p.Val1078Leu) rs587779932 0.00004
NM_000179.3(MSH6):c.364G>A (p.Glu122Lys) rs143036974 0.00004
NM_000179.3(MSH6):c.3801+5G>A rs201080919 0.00004
NM_000179.3(MSH6):c.4004A>C (p.Glu1335Ala) rs564434147 0.00004
NM_000179.3(MSH6):c.749T>C (p.Val250Ala) rs587781275 0.00004
NM_000179.3(MSH6):c.972A>C (p.Lys324Asn) rs876658610 0.00004
NM_000249.4(MLH1):c.1148T>C (p.Met383Thr) rs141344760 0.00004
NM_000249.4(MLH1):c.1565G>A (p.Arg522Gln) rs63751630 0.00004
NM_000249.4(MLH1):c.1628A>G (p.His543Arg) rs730881742 0.00004
NM_000249.4(MLH1):c.299G>A (p.Arg100Gln) rs63750266 0.00004
NM_000249.4(MLH1):c.347C>A (p.Thr116Lys) rs63750465 0.00004
NM_000249.4(MLH1):c.52C>T (p.Arg18Cys) rs367654552 0.00004
NM_000249.4(MLH1):c.794G>A (p.Arg265His) rs63751448 0.00004
NM_000249.4(MLH1):c.808A>G (p.Thr270Ala) rs371302926 0.00004
NM_000251.1(MSH2):c.-225G>C rs138068023 0.00004
NM_000251.3(MSH2):c.1021C>G (p.Leu341Val) rs748115066 0.00004
NM_000251.3(MSH2):c.1600C>T (p.Arg534Cys) rs63750029 0.00004
NM_000251.3(MSH2):c.1601G>A (p.Arg534His) rs587778523 0.00004
NM_000251.3(MSH2):c.1813G>T (p.Val605Phe) rs730881777 0.00004
NM_000251.3(MSH2):c.2211-6C>A rs267608003 0.00004
NM_000251.3(MSH2):c.607G>A (p.Gly203Arg) rs587779973 0.00004
NM_000535.6(PMS2):c.-46T>A rs765248325 0.00004
NM_000535.7(PMS2):c.11C>G (p.Ala4Gly) rs745361721 0.00004
NM_000535.7(PMS2):c.178G>A (p.Asp60Asn) rs587782176 0.00004
NM_000535.7(PMS2):c.197T>C (p.Ile66Thr) rs769554577 0.00004
NM_000535.7(PMS2):c.2347G>A (p.Val783Ile) rs553286217 0.00004
NM_000535.7(PMS2):c.2356C>A (p.Leu786Met) rs576055272 0.00004
NM_000535.7(PMS2):c.611A>G (p.Asn204Ser) rs777903002 0.00004
NM_000179.3(MSH6):c.-6G>C rs730881822 0.00003
NM_000179.3(MSH6):c.-8C>T rs565211544 0.00003
NM_000179.3(MSH6):c.1696G>A (p.Gly566Arg) rs63749973 0.00003
NM_000179.3(MSH6):c.1870G>A (p.Gly624Ser) rs868760377 0.00003
NM_000179.3(MSH6):c.3071G>A (p.Arg1024Gln) rs372705506 0.00003
NM_000179.3(MSH6):c.3100C>T (p.Arg1034Trp) rs587779930 0.00003
NM_000179.3(MSH6):c.3284G>A (p.Arg1095His) rs63750253 0.00003
NM_000179.3(MSH6):c.3543C>G (p.Asp1181Glu) rs267608100 0.00003
NM_000179.3(MSH6):c.3787C>T (p.Arg1263Cys) rs367912290 0.00003
NM_000179.3(MSH6):c.3800T>C (p.Met1267Thr) rs148445930 0.00003
NM_000179.3(MSH6):c.4002-14T>C rs587781041 0.00003
NM_000249.4(MLH1):c.116+5G>A rs267607710 0.00003
NM_000249.4(MLH1):c.1487C>T (p.Pro496Leu) rs63750226 0.00003
NM_000249.4(MLH1):c.1514G>A (p.Ser505Asn) rs771044689 0.00003
NM_000249.4(MLH1):c.1730C>T (p.Ser577Leu) rs56185292 0.00003
NM_000249.4(MLH1):c.191A>G (p.Asn64Ser) rs63750952 0.00003
NM_000249.4(MLH1):c.376T>A (p.Tyr126Asn) rs200076893 0.00003
NM_000249.4(MLH1):c.539T>G (p.Val180Gly) rs63750102 0.00003
NM_000251.3(MSH2):c.1144C>T (p.Arg382Cys) rs752373431 0.00003
NM_000251.3(MSH2):c.1204C>A (p.Gln402Lys) rs63751412 0.00003
NM_000251.3(MSH2):c.1331G>T (p.Arg444Leu) rs557339938 0.00003
NM_000251.3(MSH2):c.1382A>C (p.Asp461Ala) rs730881756 0.00003
NM_000251.3(MSH2):c.14C>A (p.Pro5Gln) rs56170584 0.00003
NM_000251.3(MSH2):c.1847C>G (p.Pro616Arg) rs587779965 0.00003
NM_000251.3(MSH2):c.2120G>A (p.Cys707Tyr) rs373226409 0.00003
NM_000251.3(MSH2):c.2211-5T>G rs368596736 0.00003
NM_000251.3(MSH2):c.2556G>C (p.Glu852Asp) rs587781453 0.00003
NM_000251.3(MSH2):c.2558A>C (p.Glu853Ala) rs63750797 0.00003
NM_000251.3(MSH2):c.260C>G (p.Ser87Cys) rs587781447 0.00003
NM_000251.3(MSH2):c.2801C>A (p.Thr934Lys) rs587779969 0.00003
NM_000251.3(MSH2):c.399C>T (p.Asp133=) rs61756462 0.00003
NM_000251.3(MSH2):c.835C>G (p.Leu279Val) rs375351205 0.00003
NM_000251.3(MSH2):c.968C>G (p.Ser323Cys) rs63750732 0.00003
NM_000535.7(PMS2):c.251C>G (p.Thr84Ser) rs864622274 0.00003
NM_000535.7(PMS2):c.364A>C (p.Ile122Leu) rs761748894 0.00003
NM_000535.7(PMS2):c.58C>T (p.Arg20Trp) rs573374779 0.00003
NM_000535.7(PMS2):c.917T>C (p.Val306Ala) rs786201878 0.00003
NM_000179.3(MSH6):c.1082G>A (p.Arg361His) rs63750440 0.00002
NM_000179.3(MSH6):c.1732C>T (p.His578Tyr) rs768854566 0.00002
NM_000179.3(MSH6):c.2092C>G (p.Gln698Glu) rs63750832 0.00002
NM_000179.3(MSH6):c.2511C>G (p.His837Gln) rs587779925 0.00002
NM_000179.3(MSH6):c.2624T>C (p.Met875Thr) rs774774596 0.00002
NM_000179.3(MSH6):c.2950A>C (p.Asn984His) rs146359682 0.00002
NM_000179.3(MSH6):c.3163G>A (p.Ala1055Thr) rs587779254 0.00002
NM_000179.3(MSH6):c.3205G>C (p.Gly1069Arg) rs764113705 0.00002
NM_000179.3(MSH6):c.3220A>T (p.Met1074Leu) rs730881804 0.00002
NM_000179.3(MSH6):c.3244C>T (p.Pro1082Ser) rs186240214 0.00002
NM_000179.3(MSH6):c.3600A>G (p.Ile1200Met) rs587781482 0.00002
NM_000179.3(MSH6):c.3740C>G (p.Thr1247Ser) rs786204182 0.00002
NM_000179.3(MSH6):c.3851C>T (p.Thr1284Met) rs63750836 0.00002
NM_000179.3(MSH6):c.3972G>C (p.Glu1324Asp) rs587779938 0.00002
NM_000179.3(MSH6):c.4000_4001+17dup rs1064794929 0.00002
NM_000179.3(MSH6):c.4005A>C (p.Glu1335Asp) rs786204130 0.00002
NM_000179.3(MSH6):c.751A>G (p.Ile251Val) rs554884560 0.00002
NM_000179.3(MSH6):c.94G>T (p.Gly32Cys) rs776859837 0.00002
NM_000249.4(MLH1):c.1564C>T (p.Arg522Trp) rs63751703 0.00002
NM_000249.4(MLH1):c.595G>C (p.Glu199Gln) rs63749887 0.00002
NM_000249.4(MLH1):c.776T>C (p.Leu259Ser) rs56250509 0.00002
NM_000251.3(MSH2):c.1070A>C (p.Glu357Ala) rs150503781 0.00002
NM_000251.3(MSH2):c.1182T>G (p.Phe394Leu) rs374135434 0.00002
NM_000251.3(MSH2):c.1681G>A (p.Glu561Lys) rs63750328 0.00002
NM_000251.3(MSH2):c.2551C>A (p.Leu851Ile) rs267608015 0.00002
NM_000251.3(MSH2):c.2717T>C (p.Ile906Thr) rs587780687 0.00002
NM_000251.3(MSH2):c.2777T>A (p.Ile926Asn) rs199747712 0.00002
NM_000251.3(MSH2):c.2786G>A (p.Arg929Gln) rs587779967 0.00002
NM_000251.3(MSH2):c.792+5A>G rs267607935 0.00002
NM_000251.3(MSH2):c.80C>T (p.Pro27Leu) rs750746034 0.00002
NM_000535.7(PMS2):c.1080A>G (p.Ile360Met) rs567102013 0.00002
NM_000535.7(PMS2):c.139C>G (p.Leu47Val) rs766203500 0.00002
NM_000535.7(PMS2):c.2174C>T (p.Ala725Val) rs150630090 0.00002
NM_000535.7(PMS2):c.412G>C (p.Asp138His) rs863224678 0.00002
NM_000535.7(PMS2):c.598G>A (p.Val200Ile) rs587778620 0.00002
NM_000535.7(PMS2):c.766G>A (p.Gly256Ser) rs587782633 0.00002
NM_000535.7(PMS2):c.868T>G (p.Phe290Val) rs587782833 0.00002
NM_000535.7(PMS2):c.964G>A (p.Val322Ile) rs587782208 0.00002
NM_000179.3(MSH6):c.1061G>T (p.Gly354Val) rs730881788 0.00001
NM_000179.3(MSH6):c.1106C>T (p.Thr369Ile) rs375974046 0.00001
NM_000179.3(MSH6):c.1190A>G (p.Tyr397Cys) rs63750065 0.00001
NM_000179.3(MSH6):c.136G>A (p.Gly46Arg) rs863224616 0.00001
NM_000179.3(MSH6):c.1565A>G (p.Gln522Arg) rs63751009 0.00001
NM_000179.3(MSH6):c.1599G>C (p.Glu533Asp) rs373726731 0.00001
NM_000179.3(MSH6):c.1652G>A (p.Gly551Asp) rs587779917 0.00001
NM_000179.3(MSH6):c.1858G>A (p.Gly620Ser) rs876661043 0.00001
NM_000179.3(MSH6):c.1894A>G (p.Lys632Glu) rs755847154 0.00001
NM_000179.3(MSH6):c.1995G>C (p.Glu665Asp) rs587778532 0.00001
NM_000179.3(MSH6):c.1999G>C (p.Asp667His) rs151086192 0.00001
NM_000179.3(MSH6):c.2025G>C (p.Glu675Asp) rs587779223 0.00001
NM_000179.3(MSH6):c.2027A>G (p.Lys676Arg) rs143643688 0.00001
NM_000179.3(MSH6):c.2107A>G (p.Met703Val) rs751867550 0.00001
NM_000179.3(MSH6):c.2147C>T (p.Thr716Ile) rs587782805 0.00001
NM_000179.3(MSH6):c.2175C>G (p.Ile725Met) rs63750304 0.00001
NM_000179.3(MSH6):c.2177T>A (p.Phe726Tyr) rs574358605 0.00001
NM_000179.3(MSH6):c.2249C>A (p.Thr750Lys) rs730881817 0.00001
NM_000179.3(MSH6):c.2291C>A (p.Thr764Asn) rs561198849 0.00001
NM_000179.3(MSH6):c.2300C>G (p.Thr767Ser) rs587781462 0.00001
NM_000179.3(MSH6):c.2320C>G (p.Leu774Val) rs864622324 0.00001
NM_000179.3(MSH6):c.2419G>A (p.Glu807Lys) rs587779923 0.00001
NM_000179.3(MSH6):c.267C>G (p.Asp89Glu) rs762818044 0.00001
NM_000179.3(MSH6):c.2827G>T (p.Asp943Tyr) rs143520357 0.00001
NM_000179.3(MSH6):c.2876G>A (p.Arg959His) rs757653982 0.00001
NM_000179.3(MSH6):c.2951A>C (p.Asn984Thr) rs587779927 0.00001
NM_000179.3(MSH6):c.2959A>G (p.Thr987Ala) rs746631156 0.00001
NM_000179.3(MSH6):c.2960C>T (p.Thr987Ile) rs587779928 0.00001
NM_000179.3(MSH6):c.2992T>A (p.Ser998Thr) rs730881800 0.00001
NM_000179.3(MSH6):c.3113A>G (p.Tyr1038Cys) rs773357672 0.00001
NM_000179.3(MSH6):c.3181C>G (p.Leu1061Val) rs1553331250 0.00001
NM_000179.3(MSH6):c.3233T>C (p.Val1078Ala) rs376452612 0.00001
NM_000179.3(MSH6):c.3334G>A (p.Asp1112Asn) rs773955368 0.00001
NM_000179.3(MSH6):c.3438+17G>C rs759737239 0.00001
NM_000179.3(MSH6):c.3452C>G (p.Ala1151Gly) rs587782625 0.00001
NM_000179.3(MSH6):c.3529C>G (p.Leu1177Val) rs748398941 0.00001
NM_000179.3(MSH6):c.3604A>G (p.Met1202Val) rs369778514 0.00001
NM_000179.3(MSH6):c.3605T>C (p.Met1202Thr) rs587779273 0.00001
NM_000179.3(MSH6):c.361C>T (p.Arg121Cys) rs763593669 0.00001
NM_000179.3(MSH6):c.3686A>G (p.Asn1229Ser) rs730881807 0.00001
NM_000179.3(MSH6):c.3949C>G (p.His1317Asp) rs759092293 0.00001
NM_000179.3(MSH6):c.4002-4T>C rs370428032 0.00001
NM_000179.3(MSH6):c.4039G>C (p.Ala1347Pro) rs730881809 0.00001
NM_000179.3(MSH6):c.4068G>C (p.Leu1356Phe) rs192740549 0.00001
NM_000179.3(MSH6):c.458-13C>G rs1057522695 0.00001
NM_000179.3(MSH6):c.503C>G (p.Ala168Gly) rs774162322 0.00001
NM_000179.3(MSH6):c.521G>A (p.Arg174Lys) rs863224629 0.00001
NM_000179.3(MSH6):c.533G>A (p.Arg178His) rs786204186 0.00001
NM_000179.3(MSH6):c.637A>C (p.Thr213Pro) rs876659071 0.00001
NM_000179.3(MSH6):c.713C>A (p.Ser238Tyr) rs587782510 0.00001
NM_000179.3(MSH6):c.727C>T (p.Arg243Cys) rs377216828 0.00001
NM_000179.3(MSH6):c.910G>A (p.Val304Met) rs876661207 0.00001
NM_000179.3(MSH6):c.941G>A (p.Ser314Asn) rs760100983 0.00001
NM_000249.4(MLH1):c.*3A>G rs587778880 0.00001
NM_000249.4(MLH1):c.1007G>A (p.Gly336Asp) rs587781750 0.00001
NM_000249.4(MLH1):c.1202G>A (p.Ser401Asn) rs587779951 0.00001
NM_000249.4(MLH1):c.1261A>G (p.Ser421Gly) rs755898663 0.00001
NM_000249.4(MLH1):c.1344G>T (p.Glu448Asp) rs587779952 0.00001
NM_000249.4(MLH1):c.1421G>A (p.Arg474Gln) rs63751083 0.00001
NM_000249.4(MLH1):c.144A>C (p.Gln48His) rs147342421 0.00001
NM_000249.4(MLH1):c.1591G>A (p.Val531Met) rs764663152 0.00001
NM_000249.4(MLH1):c.1637A>G (p.Lys546Arg) rs587779954 0.00001
NM_000249.4(MLH1):c.1682A>G (p.Tyr561Cys) rs1289807424 0.00001
NM_000249.4(MLH1):c.1775G>C (p.Ser592Thr) rs587782621 0.00001
NM_000249.4(MLH1):c.1990-6G>A rs117221851 0.00001
NM_000249.4(MLH1):c.2162A>G (p.Tyr721Cys) rs587778986 0.00001
NM_000249.4(MLH1):c.283T>G (p.Ser95Ala) rs63751070 0.00001
NM_000249.4(MLH1):c.601G>C (p.Val201Leu) rs534184145 0.00001
NM_000249.4(MLH1):c.682C>A (p.Leu228Met) rs751628735 0.00001
NM_000249.4(MLH1):c.721A>G (p.Lys241Glu) rs587778447 0.00001
NM_000249.4(MLH1):c.887T>C (p.Leu296Ser) rs63750547 0.00001
NM_000249.4(MLH1):c.979C>G (p.Gln327Glu) rs587782087 0.00001
NM_000251.3(MSH2):c.-9G>C rs547444746 0.00001
NM_000251.3(MSH2):c.1130A>G (p.Gln377Arg) rs776174711 0.00001
NM_000251.3(MSH2):c.1145G>A (p.Arg382His) rs267607947 0.00001
NM_000251.3(MSH2):c.1171G>A (p.Ala391Thr) rs878853798 0.00001
NM_000251.3(MSH2):c.11A>T (p.Gln4Leu) rs754562075 0.00001
NM_000251.3(MSH2):c.123C>G (p.Asp41Glu) rs761960690 0.00001
NM_000251.3(MSH2):c.1347G>C (p.Lys449Asn) rs587781331 0.00001
NM_000251.3(MSH2):c.1462T>G (p.Leu488Val) rs587781314 0.00001
NM_000251.3(MSH2):c.146A>T (p.Asp49Val) rs63750335 0.00001
NM_000251.3(MSH2):c.1582A>C (p.Lys528Gln) rs199744440 0.00001
NM_000251.3(MSH2):c.1640A>G (p.Asn547Ser) rs267607967 0.00001
NM_000251.3(MSH2):c.1796T>C (p.Leu599Ser) rs747504492 0.00001
NM_000251.3(MSH2):c.1804C>G (p.Leu602Val) rs748797209 0.00001
NM_000251.3(MSH2):c.1831G>A (p.Val611Met) rs369385048 0.00001
NM_000251.3(MSH2):c.1862G>A (p.Arg621Gln) rs759263820 0.00001
NM_000251.3(MSH2):c.1897A>G (p.Ile633Val) rs771695599 0.00001
NM_000251.3(MSH2):c.1933C>G (p.Gln645Glu) rs267607982 0.00001
NM_000251.3(MSH2):c.2006-4G>A rs369853630 0.00001
NM_000251.3(MSH2):c.2048G>T (p.Gly683Val) rs755920849 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.2197G>A (p.Ala733Thr) rs772662439 0.00001
NM_000251.3(MSH2):c.220A>C (p.Asn74His) rs150548839 0.00001
NM_000251.3(MSH2):c.2525A>T (p.Glu842Val) rs373393954 0.00001
NM_000251.3(MSH2):c.274C>G (p.Leu92Val) rs587779154 0.00001
NM_000251.3(MSH2):c.437G>T (p.Gly146Val) rs772052262 0.00001
NM_000251.3(MSH2):c.566C>G (p.Ala189Gly) rs141021599 0.00001
NM_000251.3(MSH2):c.5C>T (p.Ala2Val) rs587778521 0.00001
NM_000251.3(MSH2):c.610G>A (p.Gly204Arg) rs63750574 0.00001
NM_000251.3(MSH2):c.646-3T>C rs267607930 0.00001
NM_000251.3(MSH2):c.701C>T (p.Thr234Ile) rs730881773 0.00001
NM_000251.3(MSH2):c.716A>G (p.Gln239Arg) rs199676483 0.00001
NM_000251.3(MSH2):c.728G>A (p.Arg243Gln) rs63751455 0.00001
NM_000251.3(MSH2):c.934C>G (p.Leu312Val) rs756398636 0.00001
NM_000251.3(MSH2):c.982G>C (p.Ala328Pro) rs753237286 0.00001
NM_000535.7(PMS2):c.106A>C (p.Ser36Arg) rs587781918 0.00001
NM_000535.7(PMS2):c.1481C>T (p.Ser494Leu) rs587782602 0.00001
NM_000535.7(PMS2):c.163+4A>G rs864622749 0.00001
NM_000535.7(PMS2):c.1760G>A (p.Ser587Asn) rs762100304 0.00001
NM_000535.7(PMS2):c.1798A>G (p.Met600Val) rs1304634005 0.00001
NM_000535.7(PMS2):c.1952A>G (p.Lys651Arg) rs267608167 0.00001
NM_000535.7(PMS2):c.2036T>C (p.Ile679Thr) rs778251286 0.00001
NM_000535.7(PMS2):c.2062A>G (p.Ile688Val) rs1060503144 0.00001
NM_000535.7(PMS2):c.215G>A (p.Gly72Glu) rs730881915 0.00001
NM_000535.7(PMS2):c.229G>A (p.Glu77Lys) rs751235177 0.00001
NM_000535.7(PMS2):c.241G>A (p.Glu81Lys) rs730881919 0.00001
NM_000535.7(PMS2):c.25A>G (p.Thr9Ala) rs786202383 0.00001
NM_000535.7(PMS2):c.386C>T (p.Ala129Val) rs752284380 0.00001
NM_000535.7(PMS2):c.466A>G (p.Thr156Ala) rs786204206 0.00001
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro) rs587779342 0.00001
NM_000535.7(PMS2):c.881G>A (p.Arg294Gln) rs373239341 0.00001
NM_000535.7(PMS2):c.89A>G (p.Gln30Arg) rs56203955 0.00001
NM_000535.7(PMS2):c.962T>C (p.Val321Ala) rs186448384 0.00001
NM_000535.7(PMS2):c.983A>G (p.Asp328Gly) rs587782852 0.00001
NM_000179.3(MSH6):c.*24_*28del rs587779200
NM_000179.3(MSH6):c.102CGC[1] (p.Ala37del) rs1553408197
NM_000179.3(MSH6):c.1037C>T (p.Ser346Phe) rs567785169
NM_000179.3(MSH6):c.115G>C (p.Gly39Arg) rs751838296
NM_000179.3(MSH6):c.118G>A (p.Ala40Thr) rs754231971
NM_000179.3(MSH6):c.150G>T (p.Trp50Cys) rs876659674
NM_000179.3(MSH6):c.1528AGG[1] (p.Arg511del) rs993163672
NM_000179.3(MSH6):c.1763A>G (p.His588Arg) rs786202725
NM_000179.3(MSH6):c.1786T>A (p.Phe596Ile) rs587779918
NM_000179.3(MSH6):c.1793A>G (p.Lys598Arg) rs587779919
NM_000179.3(MSH6):c.1820C>G (p.Thr607Arg) rs786201676
NM_000179.3(MSH6):c.1847C>G (p.Ser616Cys) rs772363120
NM_000179.3(MSH6):c.188C>A (p.Ser63Tyr) rs587779920
NM_000179.3(MSH6):c.2203C>A (p.Leu735Ile) rs786204071
NM_000179.3(MSH6):c.2235T>G (p.Ile745Met) rs556339046
NM_000179.3(MSH6):c.2282G>A (p.Arg761Lys) rs587779233
NM_000179.3(MSH6):c.2300C>T (p.Thr767Ile) rs587781462
NM_000179.3(MSH6):c.2518A>C (p.Ser840Arg) rs863224624
NM_000179.3(MSH6):c.254CCA[1] (p.Thr86del) rs1553408448
NM_000179.3(MSH6):c.2641delinsAAAA (p.Gly881delinsLysSer) rs63751408
NM_000179.3(MSH6):c.3037AAG[1] (p.Lys1014del) rs267608073
NM_000179.3(MSH6):c.3111C>A (p.Phe1037Leu) rs587781673
NM_000179.3(MSH6):c.3151G>A (p.Val1051Ile) rs576269342
NM_000179.3(MSH6):c.3200G>C (p.Ser1067Thr) rs730881803
NM_000179.3(MSH6):c.3256C>G (p.Pro1086Ala) rs756108143
NM_000179.3(MSH6):c.3259C>G (p.Pro1087Ala) rs63750998
NM_000179.3(MSH6):c.3364C>G (p.Gln1122Glu) rs1060502892
NM_000179.3(MSH6):c.3467T>C (p.Met1156Thr) rs876659549
NM_000179.3(MSH6):c.3478G>T (p.Val1160Phe) rs376799914
NM_000179.3(MSH6):c.3610G>A (p.Ala1204Thr) rs869312799
NM_000179.3(MSH6):c.3634G>A (p.Val1212Met) rs864622748
NM_000179.3(MSH6):c.3706G>C (p.Ala1236Pro) rs1553333039
NM_000179.3(MSH6):c.3758T>C (p.Val1253Ala) rs202066386
NM_000179.3(MSH6):c.3803C>T (p.Ala1268Val) rs587779293
NM_000179.3(MSH6):c.3833C>G (p.Pro1278Arg) rs201191389
NM_000179.3(MSH6):c.3836G>A (p.Ser1279Asn) rs864622400
NM_000179.3(MSH6):c.38A>C (p.Lys13Thr) rs41294988
NM_000179.3(MSH6):c.3939_3959dup (p.Gln1314_Ala1320dup) rs1553333670
NM_000179.3(MSH6):c.3971AGA[1] (p.Lys1325del) rs587779300
NM_000179.3(MSH6):c.4077_4080dup (p.Ter1361IleextTer?) rs575068534
NM_000179.3(MSH6):c.4083GACT[3] (p.Ter1361=) rs765313977
NM_000179.3(MSH6):c.41C>T (p.Ser14Phe) rs863224628
NM_000179.3(MSH6):c.457+32TG[12] rs397839804
NM_000179.3(MSH6):c.535G>T (p.Ala179Ser) rs587781817
NM_000179.3(MSH6):c.677A>G (p.Glu226Gly) rs587781777
NM_000179.3(MSH6):c.682G>A (p.Glu228Lys) rs587779947
NM_000179.3(MSH6):c.698C>G (p.Pro233Arg) rs142949377
NM_000179.3(MSH6):c.866_867delinsAA (p.Gly289Glu) rs267608079
NM_000179.3(MSH6):c.905G>C (p.Arg302Thr) rs587781510
NM_000249.4(MLH1):c.1010C>G (p.Ser337Cys) rs763847201
NM_000249.4(MLH1):c.1088CAA[1] (p.Thr364del) rs876660192
NM_000249.4(MLH1):c.1117G>A (p.Gly373Arg) rs766904735
NM_000249.4(MLH1):c.1122T>G (p.Ser374Arg) rs759868546
NM_000249.4(MLH1):c.1136A>G (p.Tyr379Cys) rs143009528
NM_000249.4(MLH1):c.125C>T (p.Ala42Val) rs587778901
NM_000249.4(MLH1):c.1268G>A (p.Arg423Lys) rs370687064
NM_000249.4(MLH1):c.1410-8C>T rs1057521668
NM_000249.4(MLH1):c.1420C>G (p.Arg474Gly) rs147939838
NM_000249.4(MLH1):c.1487C>G (p.Pro496Arg) rs63750226
NM_000249.4(MLH1):c.1502T>G (p.Ile501Ser) rs587780679
NM_000249.4(MLH1):c.1559-11T>C rs730881750
NM_000249.4(MLH1):c.1572G>T (p.Met524Ile) rs587779953
NM_000249.4(MLH1):c.1690C>T (p.Leu564Phe) rs786202693
NM_000249.4(MLH1):c.1853A>T (p.Lys618Met) rs63750449
NM_000249.4(MLH1):c.2051A>G (p.Tyr684Cys) rs267607886
NM_000249.4(MLH1):c.2173C>G (p.Arg725Gly) rs138584384
NM_000249.4(MLH1):c.290A>G (p.Tyr97Cys) rs773647920
NM_000249.4(MLH1):c.37G>A (p.Glu13Lys) rs587779008
NM_000249.4(MLH1):c.415C>G (p.Pro139Ala) rs779562531
NM_000249.4(MLH1):c.589-6T>G rs781244266
NM_000249.4(MLH1):c.69A>T (p.Glu23Asp) rs63750555
NM_000249.4(MLH1):c.779T>A (p.Leu260His) rs63751283
NM_000249.4(MLH1):c.80G>C (p.Arg27Pro) rs138705565
NM_000249.4(MLH1):c.85G>T (p.Ala29Ser) rs63750656
NM_000249.4(MLH1):c.91_92delinsTG (p.Ala31Cys) rs63749994
NM_000251.2(MSH2):c.-81dup rs587779187
NM_000251.3(MSH2):c.1006C>T (p.Pro336Ser) rs63751062
NM_000251.3(MSH2):c.1013G>C (p.Gly338Ala) rs587779065
NM_000251.3(MSH2):c.1043A>G (p.Gln348Arg) rs773177076
NM_000251.3(MSH2):c.1271A>G (p.His424Arg) rs200429136
NM_000251.3(MSH2):c.1313C>T (p.Thr438Ile) rs1553361185
NM_000251.3(MSH2):c.1313CTC[1] (p.Pro439del) rs587779082
NM_000251.3(MSH2):c.1465G>A (p.Glu489Lys) rs876658187
NM_000251.3(MSH2):c.149C>G (p.Ala50Gly) rs876658582
NM_000251.3(MSH2):c.1547G>T (p.Ser516Ile) rs373564353
NM_000251.3(MSH2):c.1601G>T (p.Arg534Leu) rs587778523
NM_000251.3(MSH2):c.160G>T (p.Ala54Ser) rs749212640
NM_000251.3(MSH2):c.1706A>G (p.Glu569Gly) rs786201077
NM_000251.3(MSH2):c.1748A>T (p.Asn583Ile) rs201118107
NM_000251.3(MSH2):c.1817T>C (p.Val606Ala) rs376044376
NM_000251.3(MSH2):c.1828C>A (p.His610Asn) rs267607980
NM_000251.3(MSH2):c.182A>C (p.Gln61Pro) rs587779113
NM_000251.3(MSH2):c.1A>C (p.Met1Leu) rs267607911
NM_000251.3(MSH2):c.200T>A (p.Met67Lys) rs876660001
NM_000251.3(MSH2):c.2139G>T (p.Gly713=) rs63750003
NM_000251.3(MSH2):c.2164G>T (p.Val722Phe) rs587781996
NM_000251.3(MSH2):c.2210+11_2210+22del rs730881782
NM_000251.3(MSH2):c.2293G>A (p.Ala765Thr) rs63750368
NM_000251.3(MSH2):c.2375A>G (p.Asn792Ser) rs587782891
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.2567A>G (p.Tyr856Cys) rs587779150
NM_000251.3(MSH2):c.2576_2584del (p.Glu859_Gln861del) rs587781278
NM_000251.3(MSH2):c.2615A>G (p.Lys872Arg) rs587780686
NM_000251.3(MSH2):c.2726A>T (p.Lys909Ile) rs34319539
NM_000251.3(MSH2):c.2790A>G (p.Ile930Met) rs587779155
NM_000251.3(MSH2):c.308A>G (p.Tyr103Cys) rs63751173
NM_000251.3(MSH2):c.376G>C (p.Gly126Arg) rs767371843
NM_000251.3(MSH2):c.383T>G (p.Leu128Arg) rs730881768
NM_000251.3(MSH2):c.403C>T (p.Leu135Phe) rs193096019
NM_000251.3(MSH2):c.433A>G (p.Ile145Val) rs876659264
NM_000251.3(MSH2):c.470G>C (p.Gly157Ala) rs765489269
NM_000251.3(MSH2):c.507A>G (p.Ile169Met) rs748762580
NM_000251.3(MSH2):c.672C>G (p.Ile224Met) rs587779171
NM_000251.3(MSH2):c.845A>G (p.Asp282Gly) rs587779978
NM_000251.3(MSH2):c.89C>T (p.Pro30Leu) rs757892928
NM_000251.3(MSH2):c.965G>T (p.Gly322Val) rs4987188
NM_000251.3(MSH2):c.968C>T (p.Ser323Phe) rs63750732
NM_000251.3(MSH2):c.982G>A (p.Ala328Thr) rs753237286
NM_000535.5(PMS2):c.-101A>G rs587779325
NM_000535.7(PMS2):c.1041G>C (p.Glu347Asp) rs150515238
NM_000535.7(PMS2):c.123_131del (p.Leu42_Glu44del) rs863224676
NM_000535.7(PMS2):c.1688G>A (p.Arg563Gln) rs63750668
NM_000535.7(PMS2):c.1732C>T (p.Arg578Cys) rs63750534
NM_000535.7(PMS2):c.2007-6C>G rs376018314
NM_000535.7(PMS2):c.2089A>G (p.Ile697Val) rs1554295859
NM_000535.7(PMS2):c.2156A>G (p.Gln719Arg) rs587782559
NM_000535.7(PMS2):c.2212G>T (p.Val738Phe) rs758225108
NM_000535.7(PMS2):c.2380C>T (p.Pro794Ser) rs773393960
NM_000535.7(PMS2):c.2389A>T (p.Met797Leu) rs1433888137
NM_000535.7(PMS2):c.2392T>C (p.Cys798Arg) rs1554293839
NM_000535.7(PMS2):c.240C>A (p.Phe80Leu) rs143162541
NM_000535.7(PMS2):c.2464C>G (p.Leu822Val) rs1554292873
NM_000535.7(PMS2):c.2471C>A (p.Thr824Lys) rs1354323014
NM_000535.7(PMS2):c.2519C>T (p.Pro840Leu) rs1554292787
NM_000535.7(PMS2):c.355G>T (p.Asp119Tyr) rs587781913
NM_000535.7(PMS2):c.378C>G (p.His126Gln) rs768488890
NM_000535.7(PMS2):c.487T>C (p.Phe163Leu) rs587780060
NM_000535.7(PMS2):c.695G>A (p.Gly232Glu) rs201811667
NM_000535.7(PMS2):c.697C>G (p.Gln233Glu) rs587779343
NM_000535.7(PMS2):c.706-4dup rs60794673
NM_000535.7(PMS2):c.708G>T (p.Leu236Phe) rs201395630
NM_000535.7(PMS2):c.710A>T (p.Gln237Leu) rs587780061
NM_000535.7(PMS2):c.787C>G (p.Leu263Val) rs587779345

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