ClinVar Miner

List of variants reported as uncertain significance for digestive system cancer by Illumina Laboratory Services, Illumina

Included ClinVar conditions (140):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 432
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HGVS dbSNP gnomAD frequency
NM_000249.4(MLH1):c.1959G>T (p.Leu653=) rs1800146 0.00913
NM_001190274.2(FBXO11):c.*1173A>T rs2020906 0.00645
NM_001040108.2(MLH3):c.*1376C>T rs117160510 0.00527
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala) rs2020912 0.00448
NM_000251.3(MSH2):c.339G>A (p.Lys113=) rs35898375 0.00313
NM_001040108.2(MLH3):c.*3206C>T rs188135545 0.00201
NM_001040108.2(MLH3):c.2425A>G (p.Met809Val) rs61752722 0.00197
NM_000249.4(MLH1):c.790+10A>G rs182733777 0.00188
NM_001040108.2(MLH3):c.*1448G>A rs185975350 0.00185
NM_001040108.2(MLH3):c.*3258T>C rs138812028 0.00182
NM_001040108.2(MLH3):c.1939C>T (p.Arg647Cys) rs28756987 0.00171
NM_001040108.2(MLH3):c.*1470C>T rs181758061 0.00154
NM_000179.3(MSH6):c.3647-6T>A rs182871847 0.00134
NM_000249.4(MLH1):c.-28A>G rs56198082 0.00110
NM_001040108.2(MLH3):c.4351G>A (p.Glu1451Lys) rs28939071 0.00104
NM_000251.3(MSH2):c.819A>G (p.Val273=) rs146577635 0.00101
NM_001040108.2(MLH3):c.423C>T (p.Ser141=) rs142179277 0.00100
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn) rs41294980 0.00087
NM_001040108.2(MLH3):c.*1159A>C rs549461634 0.00081
NM_000535.7(PMS2):c.2187C>G (p.Leu729=) rs373630535 0.00077
NM_001040108.2(MLH3):c.2838C>A (p.Ser946=) rs181990057 0.00073
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325 0.00072
NM_001166108.2(PALLD):c.*2141A>G rs962914167 0.00071
NM_001166108.2(PALLD):c.*1792T>A rs186567215 0.00070
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005 0.00067
NM_000179.3(MSH6):c.1665A>G (p.Ala555=) rs146785465 0.00066
NM_001166108.2(PALLD):c.*2027T>C rs192990293 0.00065
NM_000179.3(MSH6):c.663A>C (p.Glu221Asp) rs41557217 0.00064
NM_000251.3(MSH2):c.55T>C (p.Phe19Leu) rs141711342 0.00063
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala) rs146176004 0.00059
NM_004360.5(CDH1):c.*424T>A rs867174076 0.00056
NM_000251.3(MSH2):c.1563T>C (p.Tyr521=) rs63750330 0.00053
NM_000535.7(PMS2):c.1708A>G (p.Asn570Asp) rs115670442 0.00048
NM_001040108.2(MLH3):c.2911G>A (p.Val971Ile) rs41555714 0.00048
NM_001040108.2(MLH3):c.*2469A>G rs764557856 0.00046
NM_004360.5(CDH1):c.*346A>T rs754600872 0.00045
NM_000251.3(MSH2):c.1680T>C (p.Asn560=) rs200056411 0.00043
NM_001040108.2(MLH3):c.*888C>T rs181069483 0.00043
NM_000251.3(MSH2):c.*129T>C rs587779059 0.00042
NM_000249.4(MLH1):c.702G>A (p.Glu234=) rs35908749 0.00041
NM_001040108.2(MLH3):c.-124A>C rs566279601 0.00041
NM_000535.7(PMS2):c.1560G>A (p.Ala520=) rs201167814 0.00039
NM_000535.7(PMS2):c.1268C>G (p.Ala423Gly) rs756883400 0.00038
NM_000179.3(MSH6):c.1449G>T (p.Val483=) rs35590297 0.00037
NM_001166108.2(PALLD):c.-83+9G>A rs150719521 0.00037
NM_001040108.2(MLH3):c.3440A>T (p.Asn1147Ile) rs142124529 0.00035
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr) rs63750365 0.00034
NM_004360.5(CDH1):c.*623A>G rs142125691 0.00034
NM_000251.3(MSH2):c.2154A>G (p.Gln718=) rs63750810 0.00033
NM_000535.7(PMS2):c.988+11T>C rs139969671 0.00032
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_000251.3(MSH2):c.435T>G (p.Ile145Met) rs63750124 0.00031
NM_001040108.2(MLH3):c.*1291G>A rs543186188 0.00031
NM_000179.3(MSH6):c.3217C>T (p.Pro1073Ser) rs142254875 0.00028
NM_000179.3(MSH6):c.4002-10T>A rs545466048 0.00026
NM_001040108.2(MLH3):c.*1073A>C rs1032410483 0.00026
NM_001166108.2(PALLD):c.-143A>G rs571957605 0.00024
NM_001166108.2(PALLD):c.*1131T>G rs773353973 0.00023
NM_001040108.2(MLH3):c.*889G>A rs886050772 0.00022
NM_004360.5(CDH1):c.*1872C>T rs545034372 0.00022
NM_004360.5(CDH1):c.33G>C (p.Leu11=) rs730881654 0.00022
NM_004360.5(CDH1):c.*196T>G rs576484193 0.00021
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln) rs63750361 0.00020
NM_001166108.2(PALLD):c.*2184G>A rs769635594 0.00020
NM_000179.3(MSH6):c.4001+11_4001+15dup rs587779302 0.00019
NM_000249.4(MLH1):c.394G>C (p.Asp132His) rs28930073 0.00019
NM_000251.3(MSH2):c.138C>G (p.His46Gln) rs33946261 0.00019
NM_000535.7(PMS2):c.1243G>A (p.Val415Met) rs138387687 0.00019
NM_001040108.2(MLH3):c.*1235T>C rs189021867 0.00019
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr) rs63749910 0.00018
NM_000535.7(PMS2):c.2253T>C (p.Phe751=) rs1805325 0.00018
NM_001040108.2(MLH3):c.3137G>A (p.Arg1046Gln) rs201303087 0.00018
NM_000535.7(PMS2):c.-7T>C rs199660792 0.00017
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met) rs587780046 0.00017
NM_000179.3(MSH6):c.3160A>T (p.Ile1054Phe) rs267608075 0.00016
NM_000249.4(MLH1):c.2101C>A (p.Gln701Lys) rs63750114 0.00016
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr) rs201343342 0.00016
NM_001040108.2(MLH3):c.713A>C (p.Tyr238Ser) rs144707485 0.00016
NM_000249.4(MLH1):c.1820T>A (p.Leu607His) rs41295284 0.00015
NM_000251.2(MSH2):c.-116G>T rs587782786 0.00015
NM_000179.3(MSH6):c.884A>G (p.Lys295Arg) rs267608051 0.00014
NM_001040108.2(MLH3):c.3752G>A (p.Arg1251Gln) rs201721635 0.00014
NM_001166108.2(PALLD):c.*2171T>C rs548951283 0.00014
NM_000179.3(MSH6):c.-56G>T rs886056139 0.00013
NM_000179.3(MSH6):c.59C>T (p.Ala20Val) rs63750664 0.00013
NM_000179.3(MSH6):c.3203G>A (p.Arg1068Gln) rs398123230 0.00012
NM_000249.4(MLH1):c.843A>C (p.Ala281=) rs146796765 0.00012
NM_000535.7(PMS2):c.2445G>A (p.Ser815=) rs753199796 0.00012
NM_000179.3(MSH6):c.628-7C>A rs373129248 0.00011
NM_000251.3(MSH2):c.1461C>G (p.Asp487Glu) rs35107951 0.00011
NM_000251.3(MSH2):c.198C>T (p.Tyr66=) rs730881784 0.00011
NM_000251.3(MSH2):c.2308A>G (p.Ile770Val) rs63750684 0.00011
NM_001166108.2(PALLD):c.-115C>G rs189011214 0.00011
NM_004360.5(CDH1):c.*1545T>C rs186584057 0.00011
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly) rs121964872 0.00011
NM_000179.3(MSH6):c.1875C>T (p.Ser625=) rs63749886 0.00010
NM_000179.3(MSH6):c.335A>G (p.Asn112Ser) rs587779934 0.00010
NM_000251.3(MSH2):c.*221G>T rs587779060 0.00010
NM_000535.7(PMS2):c.2276-10A>G rs573900018 0.00010
NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser) rs147453999 0.00009
NM_000249.3(MLH1):c.-101C>G rs772482820 0.00009
NM_000249.4(MLH1):c.1808C>G (p.Pro603Arg) rs63750876 0.00009
NM_000251.3(MSH2):c.-29C>T rs199841800 0.00009
NM_000535.7(PMS2):c.1980C>T (p.Ala660=) rs368928783 0.00009
NM_001040108.2(MLH3):c.*1110T>C rs774420872 0.00009
NM_001166108.2(PALLD):c.-135A>G rs540285834 0.00009
NM_000179.3(MSH6):c.2281A>G (p.Arg761Gly) rs199876321 0.00008
NM_000251.3(MSH2):c.1217G>A (p.Arg406Gln) rs146567853 0.00008
NM_000251.3(MSH2):c.1488A>G (p.Leu496=) rs267607960 0.00008
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp) rs199739859 0.00008
NM_000179.3(MSH6):c.1054G>A (p.Val352Ile) rs730881787 0.00007
NM_000249.4(MLH1):c.2038T>G (p.Cys680Gly) rs63750809 0.00007
NM_000249.4(MLH1):c.42A>C (p.Thr14=) rs369737664 0.00007
NM_000249.4(MLH1):c.649C>T (p.Arg217Cys) rs4986984 0.00007
NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala) rs267607939 0.00007
NM_000251.3(MSH2):c.1560A>G (p.Gly520=) rs63750820 0.00007
NM_000535.7(PMS2):c.384G>A (p.Ser128=) rs371342884 0.00007
NM_001040108.2(MLH3):c.*1447C>T rs1351576949 0.00007
NM_001040108.2(MLH3):c.*646G>A rs754358704 0.00007
NM_001040108.2(MLH3):c.3576C>T (p.Leu1192=) rs376981545 0.00007
NM_000179.3(MSH6):c.1019T>C (p.Phe340Ser) rs61753793 0.00006
NM_000179.3(MSH6):c.1050C>T (p.Ala350=) rs730881802 0.00006
NM_000179.3(MSH6):c.3478G>A (p.Val1160Ile) rs376799914 0.00006
NM_000179.3(MSH6):c.3986C>T (p.Ser1329Leu) rs199594809 0.00006
NM_000249.4(MLH1):c.1104G>A (p.Ser368=) rs769364808 0.00006
NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg) rs63750527 0.00006
NM_000249.4(MLH1):c.1733A>G (p.Glu578Gly) rs63751612 0.00006
NM_000249.4(MLH1):c.2174G>A (p.Arg725His) rs566928243 0.00006
NM_000251.3(MSH2):c.1321A>C (p.Thr441Pro) rs587779086 0.00006
NM_000251.3(MSH2):c.2271C>T (p.Tyr757=) rs56076152 0.00006
NM_000251.3(MSH2):c.2400A>G (p.Leu800=) rs201298777 0.00006
NM_000251.3(MSH2):c.2503A>C (p.Asn835His) rs41295296 0.00006
NM_000251.3(MSH2):c.382C>G (p.Leu128Val) rs145649774 0.00006
NM_000251.3(MSH2):c.512G>A (p.Arg171Lys) rs63750902 0.00006
NM_000535.7(PMS2):c.944G>A (p.Arg315Gln) rs116314131 0.00006
NM_001040108.2(MLH3):c.277C>G (p.Arg93Gly) rs28756978 0.00006
NM_001166108.2(PALLD):c.*2070G>C rs886059217 0.00006
NM_001166108.2(PALLD):c.428G>A (p.Arg143His) rs149345491 0.00006
NM_004360.5(CDH1):c.*1076T>C rs541517386 0.00006
NM_004360.5(CDH1):c.*192C>T rs576309125 0.00006
NM_004360.5(CDH1):c.*575A>C rs886052242 0.00006
NM_004360.5(CDH1):c.*615G>A rs148655354 0.00006
NM_004360.5(CDH1):c.*959C>A rs886052243 0.00006
NM_000179.3(MSH6):c.147C>T (p.Ala49=) rs768803986 0.00005
NM_000179.3(MSH6):c.1844G>C (p.Cys615Ser) rs730881793 0.00005
NM_000179.3(MSH6):c.2562G>T (p.Lys854Asn) rs759048538 0.00005
NM_000179.3(MSH6):c.3513T>C (p.Asp1171=) rs63749834 0.00005
NM_000249.4(MLH1):c.1154G>A (p.Arg385His) rs63750430 0.00005
NM_000251.3(MSH2):c.843A>T (p.Ser281=) rs150197753 0.00005
NM_000535.7(PMS2):c.-4A>G rs544503598 0.00005
NM_001040108.2(MLH3):c.*772T>A rs182733472 0.00005
NM_001166108.2(PALLD):c.*439T>C rs972893704 0.00005
NM_000179.3(MSH6):c.3557-3A>T rs41295274 0.00004
NM_000179.3(MSH6):c.3801+5G>A rs201080919 0.00004
NM_000179.3(MSH6):c.3942A>G (p.Gln1314=) rs768042560 0.00004
NM_000249.4(MLH1):c.1269G>A (p.Arg423=) rs373076967 0.00004
NM_000249.4(MLH1):c.2252A>G (p.Lys751Arg) rs140195825 0.00004
NM_000251.2(MSH2):c.-76G>A rs34355730 0.00004
NM_000251.3(MSH2):c.1530G>C (p.Gln510His) rs587782355 0.00004
NM_000251.3(MSH2):c.2580G>A (p.Ser860=) rs752428475 0.00004
NM_000251.3(MSH2):c.336C>A (p.Ser112=) rs34312619 0.00004
NM_000535.6(PMS2):c.-46T>A rs765248325 0.00004
NM_000535.7(PMS2):c.*17G>C rs556089649 0.00004
NM_000535.7(PMS2):c.11C>G (p.Ala4Gly) rs745361721 0.00004
NM_000535.7(PMS2):c.1936A>C (p.Arg646=) rs369582237 0.00004
NM_001040108.2(MLH3):c.-149G>C rs886050783 0.00004
NM_001040108.2(MLH3):c.2093A>G (p.Gln698Arg) rs148876417 0.00004
NM_001040108.2(MLH3):c.2373G>A (p.Leu791=) rs764724825 0.00004
NM_001040108.2(MLH3):c.4032C>T (p.Gly1344=) rs565238806 0.00004
NM_001166108.2(PALLD):c.*2022A>G rs886059216 0.00004
NM_001166108.2(PALLD):c.1433G>A (p.Gly478Glu) rs201816881 0.00004
NM_002354.3(EPCAM):c.-79C>T rs886056131 0.00004
NM_004360.5(CDH1):c.*1049A>C rs886052244 0.00004
NM_004360.5(CDH1):c.*1285T>C rs369689471 0.00004
NM_004360.5(CDH1):c.*193G>C rs886052238 0.00004
NM_004360.5(CDH1):c.-41C>A rs730881658 0.00004
NM_000179.3(MSH6):c.1167C>T (p.Pro389=) rs1042819 0.00003
NM_000179.3(MSH6):c.1267C>A (p.Leu423Ile) rs587781657 0.00003
NM_000179.3(MSH6):c.1915G>A (p.Glu639Lys) rs143517321 0.00003
NM_000179.3(MSH6):c.240A>G (p.Val80=) rs864622281 0.00003
NM_000249.4(MLH1):c.1730C>T (p.Ser577Leu) rs56185292 0.00003
NM_000249.4(MLH1):c.1743G>A (p.Pro581=) rs567838745 0.00003
NM_000249.4(MLH1):c.539T>G (p.Val180Gly) rs63750102 0.00003
NM_000249.4(MLH1):c.91G>T (p.Ala31Ser) rs749671520 0.00003
NM_000249.4(MLH1):c.92C>G (p.Ala31Gly) rs730882127 0.00003
NM_000251.3(MSH2):c.2205C>T (p.Ile735=) rs533553381 0.00003
NM_000251.3(MSH2):c.2211-5T>G rs368596736 0.00003
NM_000251.3(MSH2):c.2801C>A (p.Thr934Lys) rs587779969 0.00003
NM_001040108.2(MLH3):c.*1990T>A rs886050769 0.00003
NM_001040108.2(MLH3):c.*2679A>G rs1018604766 0.00003
NM_001040108.2(MLH3):c.*3105C>G rs543449865 0.00003
NM_001040108.2(MLH3):c.1940G>A (p.Arg647His) rs61755653 0.00003
NM_001040108.2(MLH3):c.2684G>A (p.Arg895His) rs186838169 0.00003
NM_001040108.2(MLH3):c.3103G>A (p.Glu1035Lys) rs143865811 0.00003
NM_001040108.2(MLH3):c.3136C>T (p.Arg1046Trp) rs765313787 0.00003
NM_001040108.2(MLH3):c.3405C>T (p.Ser1135=) rs746155226 0.00003
NM_001166108.2(PALLD):c.*1655A>T rs976050795 0.00003
NM_001166108.2(PALLD):c.*1808C>T rs539762995 0.00003
NM_001166108.2(PALLD):c.*908A>G rs886059212 0.00003
NM_004360.5(CDH1):c.*409T>A rs778711236 0.00003
NM_000179.3(MSH6):c.1668T>C (p.Tyr556=) rs730882130 0.00002
NM_000179.3(MSH6):c.2664G>C (p.Lys888Asn) rs730881798 0.00002
NM_000179.3(MSH6):c.2950A>C (p.Asn984His) rs146359682 0.00002
NM_000179.3(MSH6):c.3642A>G (p.Glu1214=) rs765247025 0.00002
NM_000249.4(MLH1):c.928A>G (p.Thr310Ala) rs779581111 0.00002
NM_000535.7(PMS2):c.1170G>A (p.Ala390=) rs755578413 0.00002
NM_000535.7(PMS2):c.1435C>G (p.His479Asp) rs376344586 0.00002
NM_000535.7(PMS2):c.1981G>A (p.Glu661Lys) rs778531080 0.00002
NM_000535.7(PMS2):c.2240G>C (p.Arg747Thr) rs587782671 0.00002
NM_000535.7(PMS2):c.705+3A>G rs764334813 0.00002
NM_001040108.2(MLH3):c.*1312G>A rs559234350 0.00002
NM_001040108.2(MLH3):c.124G>A (p.Ala42Thr) rs748676497 0.00002
NM_001040108.2(MLH3):c.3020A>G (p.Asn1007Ser) rs776639203 0.00002
NM_001166108.2(PALLD):c.*400T>C rs748402946 0.00002
NM_001166108.2(PALLD):c.860G>A (p.Arg287Gln) rs141283998 0.00002
NM_004360.5(CDH1):c.*1435A>T rs886052245 0.00002
NM_004360.5(CDH1):c.*582C>A rs920956371 0.00002
NM_000179.3(MSH6):c.1170T>C (p.Asp390=) rs55882234 0.00001
NM_000179.3(MSH6):c.233G>A (p.Arg78Lys) rs864622425 0.00001
NM_000179.3(MSH6):c.2356T>C (p.Tyr786His) rs773193199 0.00001
NM_000179.3(MSH6):c.2410A>G (p.Lys804Glu) rs1064793552 0.00001
NM_000179.3(MSH6):c.2940A>G (p.Glu980=) rs730881818 0.00001
NM_000179.3(MSH6):c.333C>T (p.Tyr111=) rs786202772 0.00001
NM_000179.3(MSH6):c.997A>G (p.Thr333Ala) rs886056143 0.00001
NM_000249.3(MLH1):c.-114T>C rs886058380 0.00001
NM_000249.4(MLH1):c.*121A>G rs766562208 0.00001
NM_000249.4(MLH1):c.-22C>T rs771060933 0.00001
NM_000249.4(MLH1):c.1038+15C>T rs886058382 0.00001
NM_000249.4(MLH1):c.1175A>G (p.Lys392Arg) rs587780678 0.00001
NM_000249.4(MLH1):c.1236C>T (p.Val412=) rs369576099 0.00001
NM_000249.4(MLH1):c.1541A>G (p.Asn514Ser) rs772245091 0.00001
NM_000249.4(MLH1):c.1698T>C (p.Tyr566=) rs876658915 0.00001
NM_000249.4(MLH1):c.1989+12A>G rs755976424 0.00001
NM_000249.4(MLH1):c.2070C>T (p.Tyr690=) rs550890395 0.00001
NM_000249.4(MLH1):c.5C>T (p.Ser2Leu) rs587779029 0.00001
NM_000249.4(MLH1):c.848A>G (p.Tyr283Cys) rs201931669 0.00001
NM_000251.2(MSH2):c.-43G>C rs781492698 0.00001
NM_000251.2(MSH2):c.-94C>G rs786202841 0.00001
NM_000251.2(MSH2):c.-98C>T rs777285149 0.00001
NM_000251.3(MSH2):c.1670C>G (p.Thr557Ser) rs139920308 0.00001
NM_000251.3(MSH2):c.1781C>T (p.Thr594Ile) rs1553368510 0.00001
NM_000251.3(MSH2):c.1804C>G (p.Leu602Val) rs748797209 0.00001
NM_000251.3(MSH2):c.2064G>A (p.Met688Ile) rs63750790 0.00001
NM_000251.3(MSH2):c.2106G>A (p.Val702=) rs786201108 0.00001
NM_000251.3(MSH2):c.2197G>A (p.Ala733Thr) rs772662439 0.00001
NM_000251.3(MSH2):c.335C>G (p.Ser112Cys) rs769215192 0.00001
NM_000251.3(MSH2):c.669G>A (p.Leu223=) rs751195930 0.00001
NM_000251.3(MSH2):c.716A>G (p.Gln239Arg) rs199676483 0.00001
NM_000251.3(MSH2):c.816G>A (p.Ala272=) rs368912987 0.00001
NM_000251.3(MSH2):c.972G>A (p.Gln324=) rs63750505 0.00001
NM_000535.7(PMS2):c.1552G>A (p.Glu518Lys) rs376142390 0.00001
NM_000535.7(PMS2):c.1918G>A (p.Glu640Lys) rs886062400 0.00001
NM_000535.7(PMS2):c.25A>G (p.Thr9Ala) rs786202383 0.00001
NM_000535.7(PMS2):c.353+4A>G rs760538709 0.00001
NM_000535.7(PMS2):c.354-5C>G rs200591010 0.00001
NM_001040108.2(MLH3):c.1125T>C (p.Asp375=) rs781394261 0.00001
NM_001040108.2(MLH3):c.1300A>G (p.Asn434Asp) rs886050777 0.00001
NM_001040108.2(MLH3):c.1427T>C (p.Ile476Thr) rs759144160 0.00001
NM_001040108.2(MLH3):c.1560G>T (p.Glu520Asp) rs886050776 0.00001
NM_001040108.2(MLH3):c.1736C>T (p.Thr579Ile) rs1479954154 0.00001
NM_001040108.2(MLH3):c.3384T>C (p.Thr1128=) rs370951929 0.00001
NM_001040108.2(MLH3):c.3689G>A (p.Arg1230His) rs781739661 0.00001
NM_001040108.2(MLH3):c.3751C>T (p.Arg1251Trp) rs754799700 0.00001
NM_001166108.2(PALLD):c.*1787T>C rs886059215 0.00001
NM_001166108.2(PALLD):c.*2166A>G rs886059220 0.00001
NM_001166108.2(PALLD):c.-172C>A rs777479051 0.00001
NM_001166108.2(PALLD):c.-178G>A rs886059207 0.00001
NM_001166108.2(PALLD):c.107A>G (p.Gln36Arg) rs889514388 0.00001
NM_001166108.2(PALLD):c.1129A>G (p.Lys377Glu) rs368684220 0.00001
NM_001166108.2(PALLD):c.1219A>T (p.Thr407Ser) rs775730191 0.00001
NM_001166108.2(PALLD):c.1260+8T>C rs887513464 0.00001
NM_001166108.2(PALLD):c.222C>T (p.Ser74=) rs201038000 0.00001
NM_001166108.2(PALLD):c.836G>C (p.Ser279Thr) rs886059209 0.00001
NM_002354.3(EPCAM):c.-192G>T rs376344699 0.00001
NM_004360.5(CDH1):c.*172A>C rs886052237 0.00001
NM_004360.5(CDH1):c.*1765A>G rs1343770513 0.00001
NM_004360.5(CDH1):c.1315G>A (p.Ala439Thr) rs758764445 0.00001
NM_004360.5(CDH1):c.150C>A (p.Arg50=) rs786201262 0.00001
NM_004360.5(CDH1):c.1843A>G (p.Ile615Val) rs1003012321 0.00001
NM_004360.5(CDH1):c.2219C>A (p.Pro740His) rs730881669 0.00001
NM_004360.5(CDH1):c.2505T>C (p.Tyr835=) rs786202613 0.00001
NM_004360.5(CDH1):c.370C>T (p.Arg124Cys) rs748086082 0.00001
NM_004360.5(CDH1):c.462A>G (p.Arg154=) rs1057520261 0.00001
NM_004360.5(CDH1):c.794A>T (p.Glu265Val) rs587782728 0.00001
NM_007194.4(CHEK2):c.335A>G (p.Asn112Ser) rs876660788 0.00001
NM_000179.3(MSH6):c.*34G>C rs184571812
NM_000179.3(MSH6):c.-41G>T rs886056140
NM_000179.3(MSH6):c.-51G>T rs375109921
NM_000179.3(MSH6):c.1037C>T (p.Ser346Phe) rs567785169
NM_000179.3(MSH6):c.2013G>A (p.Leu671=) rs765289515
NM_000179.3(MSH6):c.2087T>C (p.Ile696Thr) rs587779229
NM_000179.3(MSH6):c.2098C>A (p.Leu700Ile) rs587779230
NM_000179.3(MSH6):c.2482G>A (p.Val828Ile) rs587781349
NM_000179.3(MSH6):c.249T>G (p.Ala83=) rs876658308
NM_000179.3(MSH6):c.2722G>A (p.Glu908Lys) rs886056144
NM_000179.3(MSH6):c.3215G>A (p.Gly1072Asp) rs781243845
NM_000179.3(MSH6):c.3259C>A (p.Pro1087Thr) rs63750998
NM_000179.3(MSH6):c.3354G>A (p.Glu1118=) rs35642130
NM_000179.3(MSH6):c.339C>T (p.His113=) rs886056141
NM_000179.3(MSH6):c.34C>A (p.Pro12Thr) rs587782084
NM_000179.3(MSH6):c.3647-3C>T rs1553332959
NM_000179.3(MSH6):c.3705T>C (p.Leu1235=) rs545552712
NM_000179.3(MSH6):c.3758T>A (p.Val1253Glu) rs202066386
NM_000179.3(MSH6):c.3851C>G (p.Thr1284Arg) rs63750836
NM_000179.3(MSH6):c.3873G>C (p.Lys1291Asn) rs1670110153
NM_000179.3(MSH6):c.531A>T (p.Gln177His) rs886056142
NM_000179.3(MSH6):c.628-13C>G rs538280815
NM_000179.3(MSH6):c.733A>T (p.Ile245Leu) rs762168786
NM_000179.3(MSH6):c.929T>G (p.Leu310Arg) rs777302246
NM_000249.3(MLH1):c.-107C>G rs587778886
NM_000249.3(MLH1):c.-117G>T rs565891017
NM_000249.3(MLH1):c.-86G>A rs558051715
NM_000249.4(MLH1):c.1266C>T (p.Gly422=) rs63750791
NM_000249.4(MLH1):c.1524T>G (p.Ser508Arg) rs886058383
NM_000249.4(MLH1):c.1572G>C (p.Met524Ile) rs587779953
NM_000249.4(MLH1):c.1620G>A (p.Leu540=) rs786202409
NM_000249.4(MLH1):c.1731+11A>T rs886058384
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr) rs63750449
NM_000249.4(MLH1):c.1854G>A (p.Lys618=) rs786202638
NM_000249.4(MLH1):c.2024G>C (p.Ser675Thr) rs781637991
NM_000249.4(MLH1):c.52C>G (p.Arg18Gly) rs367654552
NM_000249.4(MLH1):c.546-5del rs1553643965
NM_000249.4(MLH1):c.81G>A (p.Arg27=) rs878853791
NM_000251.2(MSH2):c.-68G>A rs576303132
NM_000251.3(MSH2):c.*47G>A rs1196239075
NM_000251.3(MSH2):c.*52A>T rs886056138
NM_000251.3(MSH2):c.*64T>C rs1278729941
NM_000251.3(MSH2):c.*7C>G rs886056137
NM_000251.3(MSH2):c.1076+4T>A rs764606343
NM_000251.3(MSH2):c.1124C>G (p.Thr375Ser) rs774539871
NM_000251.3(MSH2):c.1192G>A (p.Ala398Thr) rs988252817
NM_000251.3(MSH2):c.1193C>T (p.Ala398Val) rs1060502019
NM_000251.3(MSH2):c.2005+3A>G rs1060502014
NM_000251.3(MSH2):c.209C>A (p.Ala70Glu) rs587782481
NM_000251.3(MSH2):c.2260A>G (p.Thr754Ala) rs757268664
NM_000251.3(MSH2):c.2463C>T (p.Val821=) rs886056136
NM_000251.3(MSH2):c.2553T>G (p.Leu851=) rs1553370386
NM_000251.3(MSH2):c.562G>A (p.Glu188Lys) rs1064795622
NM_000251.3(MSH2):c.606C>G (p.Pro202=) rs63750600
NM_000251.3(MSH2):c.638T>G (p.Leu213Arg) rs1553350974
NM_000251.3(MSH2):c.67T>C (p.Phe23Leu) rs372619120
NM_000251.3(MSH2):c.755A>C (p.Gln252Pro) rs370906735
NM_000251.3(MSH2):c.942+26_942+29del rs11309117
NM_000251.3(MSH2):c.942+28_942+29del rs11309117
NM_000535.6(PMS2):c.-48C>A rs886062402
NM_000535.7(PMS2):c.1026A>C (p.Gln342His) rs561993366
NM_000535.7(PMS2):c.1099G>A (p.Val367Ile) rs746889239
NM_000535.7(PMS2):c.1359G>A (p.Met453Ile) rs886062401
NM_000535.7(PMS2):c.1688G>A (p.Arg563Gln) rs63750668
NM_000535.7(PMS2):c.1916G>A (p.Ser639Asn) rs876659769
NM_000535.7(PMS2):c.1949C>T (p.Ala650Val) rs886062399
NM_000535.7(PMS2):c.2174+9G>T rs1782431297
NM_000535.7(PMS2):c.2275+11A>T rs983422739
NM_000535.7(PMS2):c.636G>A (p.Gln212=) rs1784804225
NM_000535.7(PMS2):c.893A>G (p.Asp298Gly) rs876658970
NM_001040108.1(MLH3):c.-202A>C rs886050784
NM_001040108.1(MLH3):c.-208G>A rs886050785
NM_001040108.2(MLH3):c.*1381T>C rs1889846337
NM_001040108.2(MLH3):c.*1452G>T rs886050771
NM_001040108.2(MLH3):c.*1566G>A rs1555386072
NM_001040108.2(MLH3):c.*1628G>A rs571716035
NM_001040108.2(MLH3):c.*1674T>C rs1889836174
NM_001040108.2(MLH3):c.*1701del rs886050770
NM_001040108.2(MLH3):c.*187T>C rs1889916394
NM_001040108.2(MLH3):c.*2058G>T rs190537801
NM_001040108.2(MLH3):c.*2086C>T rs886050768
NM_001040108.2(MLH3):c.*2398C>A rs1889806410
NM_001040108.2(MLH3):c.*2470C>T rs1889802435
NM_001040108.2(MLH3):c.*2495C>T rs1889801175
NM_001040108.2(MLH3):c.*3047G>T rs1033159745
NM_001040108.2(MLH3):c.*3048del rs886050767
NM_001040108.2(MLH3):c.*3094C>T rs1243766498
NM_001040108.2(MLH3):c.*3140C>G rs77514025
NM_001040108.2(MLH3):c.*541A>G rs1889895952
NM_001040108.2(MLH3):c.*563A>G rs765593107
NM_001040108.2(MLH3):c.*744A>G rs886050774
NM_001040108.2(MLH3):c.*755T>C rs1889885062
NM_001040108.2(MLH3):c.*797dup rs886050773
NM_001040108.2(MLH3):c.*884C>G rs1889877324
NM_001040108.2(MLH3):c.*957_*958delinsAT rs386778871
NM_001040108.2(MLH3):c.-120G>A rs886050782
NM_001040108.2(MLH3):c.-27G>A rs886050780
NM_001040108.2(MLH3):c.-63-10dup rs886050781
NM_001040108.2(MLH3):c.1144G>T (p.Val382Leu) rs558393444
NM_001040108.2(MLH3):c.1481A>G (p.His494Arg) rs760778201
NM_001040108.2(MLH3):c.149T>A (p.Phe50Tyr) rs148409389
NM_001040108.2(MLH3):c.1814C>T (p.Ser605Phe) rs1892361991
NM_001040108.2(MLH3):c.206T>C (p.Val69Ala) rs886050779
NM_001040108.2(MLH3):c.2128T>C (p.Leu710=) rs1892333159
NM_001040108.2(MLH3):c.2987G>A (p.Gly996Glu) rs886050775
NM_001040108.2(MLH3):c.3465+14A>G rs775972214
NM_001040108.2(MLH3):c.4091-2A>C rs906969002
NM_001040108.2(MLH3):c.4239A>G (p.Lys1413=) rs975447813
NM_001040108.2(MLH3):c.961A>G (p.Met321Val) rs886050778
NM_001166108.2(PALLD):c.*1011_*1014dup rs1363457314
NM_001166108.2(PALLD):c.*1713T>C rs765552955
NM_001166108.2(PALLD):c.*1757T>G rs886059214
NM_001166108.2(PALLD):c.*1786_*1787insATT rs1553986519
NM_001166108.2(PALLD):c.*2155_*2156del rs398064261
NM_001166108.2(PALLD):c.*2156dup rs398064261
NM_001166108.2(PALLD):c.*2168C>A rs886059221
NM_001166108.2(PALLD):c.*386T>C rs575876255
NM_001166108.2(PALLD):c.*461G>A rs939786378
NM_001166108.2(PALLD):c.*829dup rs886059211
NM_001166108.2(PALLD):c.-139G>T rs886059208
NM_001166108.2(PALLD):c.1571G>T (p.Arg524Ile) rs776908136
NM_001166108.2(PALLD):c.1616C>T (p.Thr539Ile) rs780510622
NM_001166108.2(PALLD):c.1926C>G (p.Pro642=) rs886059210
NM_001166108.2(PALLD):c.1957C>A (p.Pro653Thr) rs1784873065
NM_001166108.2(PALLD):c.2686C>T (p.Arg896Trp) rs772889018
NM_001166108.2(PALLD):c.574A>G (p.Ser192Gly) rs1762575507
NM_001166108.2(PALLD):c.639C>A (p.Ala213=) rs1762581096
NM_001166108.2(PALLD):c.721C>T (p.His241Tyr) rs1490249027
NM_001166108.2(PALLD):c.908+3A>G rs1762604026
NM_001166108.2(PALLD):c.946G>T (p.Asp316Tyr) rs1477916241
NM_002354.3(EPCAM):c.*147dup rs886056132
NM_004360.5(CDH1):c.*1591T>C rs886052246
NM_004360.5(CDH1):c.*221del rs145920869
NM_004360.5(CDH1):c.*221dup rs145920869
NM_004360.5(CDH1):c.*236C>T rs1961559604
NM_004360.5(CDH1):c.*309C>T rs562205897
NM_004360.5(CDH1):c.*474_*475dup rs113202135
NM_004360.5(CDH1):c.*475del rs113202135
NM_004360.5(CDH1):c.*627T>G rs1567518268
NM_004360.5(CDH1):c.1018A>T (p.Thr340Ser) rs116093741
NM_004360.5(CDH1):c.1137+9A>T rs780705655
NM_004360.5(CDH1):c.1170C>T (p.Asn390=) rs766505270
NM_004360.5(CDH1):c.1360G>C (p.Val454Leu) rs587780112
NM_004360.5(CDH1):c.1366G>T (p.Val456Leu) rs974965262
NM_004360.5(CDH1):c.1716T>C (p.Ser572=) rs876660176
NM_004360.5(CDH1):c.1887A>G (p.Glu629=) rs886052236
NM_004360.5(CDH1):c.597A>G (p.Thr199=) rs1960738532

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