ClinVar Miner

List of variants studied for Lynch syndrome 1 by Baylor Genetics

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ClinVar version:
Total variants: 487
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HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.942+2T>A rs587779195 0.00101
NM_000251.3(MSH2):c.942+3A>T rs193922376 0.00072
NM_000251.3(MSH2):c.2537A>G (p.Gln846Arg) rs140754514 0.00015
NM_000251.3(MSH2):c.766G>A (p.Ala256Thr) rs377403073 0.00014
NM_000251.3(MSH2):c.508C>G (p.Gln170Glu) rs63750843 0.00011
NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys) rs17217723 0.00010
NM_000251.3(MSH2):c.114C>G (p.Asp38Glu) rs587779074 0.00009
NM_000251.3(MSH2):c.1505A>G (p.Asp502Gly) rs148192104 0.00009
NM_000251.3(MSH2):c.2308A>G (p.Ile770Val) rs63750684 0.00009
NM_000251.3(MSH2):c.97A>C (p.Thr33Pro) rs63751107 0.00009
NM_000251.3(MSH2):c.1159C>T (p.Leu387Phe) rs751249745 0.00008
NM_000251.3(MSH2):c.820A>G (p.Ile274Val) rs371944271 0.00008
NM_000251.3(MSH2):c.818T>C (p.Val273Ala) rs144288433 0.00006
NM_000251.3(MSH2):c.1473G>T (p.Lys491Asn) rs1064795039 0.00005
NM_000251.3(MSH2):c.1774A>G (p.Met592Val) rs371614039 0.00005
NM_000251.3(MSH2):c.2267C>G (p.Thr756Ser) rs372383829 0.00005
NM_000251.3(MSH2):c.885C>G (p.Asp295Glu) rs201334592 0.00005
NM_000251.3(MSH2):c.1021C>G (p.Leu341Val) rs748115066 0.00004
NM_000251.3(MSH2):c.1238A>C (p.Gln413Pro) rs587779962 0.00004
NM_000251.3(MSH2):c.1600C>T (p.Arg534Cys) rs63750029 0.00004
NM_000251.3(MSH2):c.1813G>T (p.Val605Phe) rs730881777 0.00004
NM_000251.3(MSH2):c.860G>C (p.Gly287Ala) rs587782567 0.00004
NM_000251.3(MSH2):c.891C>G (p.Ser297Arg) rs551236465 0.00004
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.1465G>A (p.Glu489Lys) rs876658187 0.00003
NM_000251.3(MSH2):c.14C>A (p.Pro5Gln) rs56170584 0.00003
NM_000251.3(MSH2):c.1530G>C (p.Gln510His) rs587782355 0.00003
NM_000251.3(MSH2):c.157G>T (p.Ala53Ser) rs755931648 0.00003
NM_000251.3(MSH2):c.1601G>A (p.Arg534His) rs587778523 0.00003
NM_000251.3(MSH2):c.1862G>T (p.Arg621Leu) rs759263820 0.00003
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro) rs63750875 0.00003
NM_000251.3(MSH2):c.2517T>A (p.His839Gln) rs267608016 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.74G>A (p.Gly25Asp) rs767747378 0.00003
NM_000251.3(MSH2):c.763A>C (p.Ser255Arg) rs761529282 0.00003
NM_000251.3(MSH2):c.80C>T (p.Pro27Leu) rs750746034 0.00003
NM_000251.3(MSH2):c.1032G>C (p.Gln344His) rs375799148 0.00002
NM_000251.3(MSH2):c.1070A>C (p.Glu357Ala) rs150503781 0.00002
NM_000251.3(MSH2):c.1124C>T (p.Thr375Ile) rs774539871 0.00002
NM_000251.3(MSH2):c.116G>C (p.Arg39Pro) rs587782759 0.00002
NM_000251.3(MSH2):c.1182T>G (p.Phe394Leu) rs374135434 0.00002
NM_000251.3(MSH2):c.1254A>G (p.Ile418Met) rs751431238 0.00002
NM_000251.3(MSH2):c.1681G>A (p.Glu561Lys) rs63750328 0.00002
NM_000251.3(MSH2):c.1817T>A (p.Val606Asp) rs376044376 0.00002
NM_000251.3(MSH2):c.1937A>C (p.Asp646Ala) rs41295290 0.00002
NM_000251.3(MSH2):c.2158A>G (p.Lys720Glu) rs747265823 0.00002
NM_000251.3(MSH2):c.2178G>C (p.Met726Ile) rs587782396 0.00002
NM_000251.3(MSH2):c.2309T>C (p.Ile770Thr) rs371718349 0.00002
NM_000251.3(MSH2):c.2362A>C (p.Thr788Pro) rs774440277 0.00002
NM_000251.3(MSH2):c.2377C>G (p.Gln793Glu) rs730881769 0.00002
NM_000251.3(MSH2):c.2379G>T (p.Gln793His) rs767520406 0.00002
NM_000251.3(MSH2):c.2650A>T (p.Ile884Phe) rs774732579 0.00002
NM_000251.3(MSH2):c.328A>C (p.Lys110Gln) rs587779970 0.00002
NM_000251.3(MSH2):c.368C>G (p.Ala123Gly) rs730881767 0.00002
NM_000251.3(MSH2):c.581T>C (p.Ile194Thr) rs730881778 0.00002
NM_000251.3(MSH2):c.894G>C (p.Gln298His) rs587781397 0.00002
NM_000251.3(MSH2):c.938T>C (p.Phe313Ser) rs780656204 0.00002
NM_000251.3(MSH2):c.10C>A (p.Gln4Lys) rs878853797 0.00001
NM_000251.3(MSH2):c.1130A>G (p.Gln377Arg) rs776174711 0.00001
NM_000251.3(MSH2):c.1153C>G (p.Pro385Ala) rs763985746 0.00001
NM_000251.3(MSH2):c.1157A>G (p.Asp386Gly) rs1203515094 0.00001
NM_000251.3(MSH2):c.1166G>A (p.Arg389Gln) rs757276241 0.00001
NM_000251.3(MSH2):c.1171G>A (p.Ala391Thr) rs878853798 0.00001
NM_000251.3(MSH2):c.1175A>T (p.Lys392Met) rs61756465 0.00001
NM_000251.3(MSH2):c.118G>A (p.Gly40Ser) rs63751260 0.00001
NM_000251.3(MSH2):c.121G>T (p.Asp41Tyr) rs878853799 0.00001
NM_000251.3(MSH2):c.1223A>G (p.Tyr408Cys) rs63750379 0.00001
NM_000251.3(MSH2):c.123C>G (p.Asp41Glu) rs761960690 0.00001
NM_000251.3(MSH2):c.1264G>A (p.Glu422Lys) rs63751712 0.00001
NM_000251.3(MSH2):c.1334C>T (p.Ser445Phe) rs752067883 0.00001
NM_000251.3(MSH2):c.1361T>C (p.Ile454Thr) rs1060502025 0.00001
NM_000251.3(MSH2):c.1363G>C (p.Glu455Gln) rs1675074360 0.00001
NM_000251.3(MSH2):c.1379T>C (p.Met460Thr) rs1553361303 0.00001
NM_000251.3(MSH2):c.1397A>G (p.His466Arg) rs544265737 0.00001
NM_000251.3(MSH2):c.1418C>T (p.Ser473Leu) rs63751403 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.1478A>T (p.Gln493Leu) rs376990143 0.00001
NM_000251.3(MSH2):c.1480T>C (p.Ser494Pro) rs55653533 0.00001
NM_000251.3(MSH2):c.1502G>A (p.Arg501Lys) rs376677710 0.00001
NM_000251.3(MSH2):c.1571G>A (p.Arg524His) rs63751207 0.00001
NM_000251.3(MSH2):c.1619G>C (p.Ser540Thr) rs1553366622 0.00001
NM_000251.3(MSH2):c.1622C>T (p.Thr541Ile) rs864622079 0.00001
NM_000251.3(MSH2):c.163C>G (p.Arg55Gly) rs587782354 0.00001
NM_000251.3(MSH2):c.1645G>A (p.Val549Ile) rs876659905 0.00001
NM_000251.3(MSH2):c.1684G>C (p.Glu562Gln) rs1114167816 0.00001
NM_000251.3(MSH2):c.16A>G (p.Lys6Glu) rs777351049 0.00001
NM_000251.3(MSH2):c.1709A>G (p.Tyr570Cys) rs587779963 0.00001
NM_000251.3(MSH2):c.1772C>T (p.Pro591Leu) rs587782643 0.00001
NM_000251.3(MSH2):c.1781C>T (p.Thr594Ile) rs1553368510 0.00001
NM_000251.3(MSH2):c.1792G>A (p.Val598Met) rs778152746 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.1819A>G (p.Ser607Gly) rs772991620 0.00001
NM_000251.3(MSH2):c.1882G>A (p.Gly628Arg) rs371776176 0.00001
NM_000251.3(MSH2):c.1897A>G (p.Ile633Val) rs771695599 0.00001
NM_000251.3(MSH2):c.1898T>C (p.Ile633Thr) rs864622093 0.00001
NM_000251.3(MSH2):c.1907C>T (p.Ala636Val) rs63750279 0.00001
NM_000251.3(MSH2):c.1927G>A (p.Glu643Lys) rs374840361 0.00001
NM_000251.3(MSH2):c.1943T>A (p.Ile648Asn) rs763100088 0.00001
NM_000251.3(MSH2):c.1967A>G (p.Tyr656Cys) rs185356145 0.00001
NM_000251.3(MSH2):c.1999A>G (p.Ile667Val) rs876660585 0.00001
NM_000251.3(MSH2):c.2038C>G (p.Arg680Gly) rs63749932 0.00001
NM_000251.3(MSH2):c.2047G>A (p.Gly683Arg) rs267607995 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.2083G>C (p.Val695Leu) rs772491283 0.00001
NM_000251.3(MSH2):c.2086C>T (p.Pro696Ser) rs546201898 0.00001
NM_000251.3(MSH2):c.211+5G>T rs1060501999 0.00001
NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter) rs63750636 0.00001
NM_000251.3(MSH2):c.2170A>G (p.Thr724Ala) rs879254203 0.00001
NM_000251.3(MSH2):c.2171C>T (p.Thr724Met) rs63751125 0.00001
NM_000251.3(MSH2):c.2197G>A (p.Ala733Thr) rs772662439 0.00001
NM_000251.3(MSH2):c.2224G>A (p.Asp742Asn) rs879254183 0.00001
NM_000251.3(MSH2):c.2296A>G (p.Ile766Val) rs374399939 0.00001
NM_000251.3(MSH2):c.2298A>G (p.Ile766Met) rs1064795116 0.00001
NM_000251.3(MSH2):c.2320A>T (p.Ile774Phe) rs775464903 0.00001
NM_000251.3(MSH2):c.2335A>C (p.Met779Leu) rs1114167843 0.00001
NM_000251.3(MSH2):c.2386A>G (p.Thr796Ala) rs876660738 0.00001
NM_000251.3(MSH2):c.2437A>G (p.Met813Val) rs63749841 0.00001
NM_000251.3(MSH2):c.2504A>G (p.Asn835Ser) rs779729016 0.00001
NM_000251.3(MSH2):c.2533A>G (p.Lys845Glu) rs63750571 0.00001
NM_000251.3(MSH2):c.2569A>G (p.Ile857Val) rs753459308 0.00001
NM_000251.3(MSH2):c.2593A>G (p.Ile865Val) rs1013401625 0.00001
NM_000251.3(MSH2):c.2606C>A (p.Ala869Glu) rs730881772 0.00001
NM_000251.3(MSH2):c.2651T>C (p.Ile884Thr) rs63750409 0.00001
NM_000251.3(MSH2):c.2726A>G (p.Lys909Arg) rs34319539 0.00001
NM_000251.3(MSH2):c.2777T>A (p.Ile926Asn) rs199747712 0.00001
NM_000251.3(MSH2):c.2789dup (p.Val932fs) rs786202481 0.00001
NM_000251.3(MSH2):c.319G>C (p.Ala107Pro) rs587779158 0.00001
NM_000251.3(MSH2):c.337A>G (p.Lys113Glu) rs1573437064 0.00001
NM_000251.3(MSH2):c.364A>G (p.Lys122Glu) rs374127044 0.00001
NM_000251.3(MSH2):c.376G>A (p.Gly126Ser) rs767371843 0.00001
NM_000251.3(MSH2):c.383T>G (p.Leu128Arg) rs730881768 0.00001
NM_000251.3(MSH2):c.386C>G (p.Ser129Cys) rs587779972 0.00001
NM_000251.3(MSH2):c.38G>A (p.Ser13Asn) rs63749907 0.00001
NM_000251.3(MSH2):c.395A>T (p.Glu132Val) rs1486720679 0.00001
NM_000251.3(MSH2):c.422T>C (p.Met141Thr) rs768313658 0.00001
NM_000251.3(MSH2):c.437G>T (p.Gly146Val) rs772052262 0.00001
NM_000251.3(MSH2):c.43G>A (p.Ala15Thr) rs1183892581 0.00001
NM_000251.3(MSH2):c.446G>A (p.Gly149Asp) rs587779162 0.00001
NM_000251.3(MSH2):c.458C>T (p.Ser153Phe) rs766349734 0.00001
NM_000251.3(MSH2):c.49G>A (p.Val17Ile) rs63750966 0.00001
NM_000251.3(MSH2):c.554C>T (p.Ser185Phe) rs878853819 0.00001
NM_000251.3(MSH2):c.598G>A (p.Val200Ile) rs1558459684 0.00001
NM_000251.3(MSH2):c.5C>T (p.Ala2Val) rs587778521 0.00001
NM_000251.3(MSH2):c.605C>T (p.Pro202Leu) rs1060502002 0.00001
NM_000251.3(MSH2):c.610G>A (p.Gly204Arg) rs63750574 0.00001
NM_000251.3(MSH2):c.62G>T (p.Arg21Leu) rs730881760 0.00001
NM_000251.3(MSH2):c.700A>G (p.Thr234Ala) rs1212577306 0.00001
NM_000251.3(MSH2):c.701C>T (p.Thr234Ile) rs730881773 0.00001
NM_000251.3(MSH2):c.715C>G (p.Gln239Glu) rs63750488 0.00001
NM_000251.3(MSH2):c.716A>G (p.Gln239Arg) rs199676483 0.00001
NM_000251.3(MSH2):c.727C>T (p.Arg243Trp) rs138857091 0.00001
NM_000251.3(MSH2):c.742A>G (p.Lys248Glu) rs587779178 0.00001
NM_000251.3(MSH2):c.755A>G (p.Gln252Arg) rs370906735 0.00001
NM_000251.3(MSH2):c.759G>A (p.Met253Ile) rs1060502021 0.00001
NM_000251.3(MSH2):c.775C>T (p.Pro259Ser) rs587781294 0.00001
NM_000251.3(MSH2):c.803C>T (p.Ser268Leu) rs563410947 0.00001
NM_000251.3(MSH2):c.855C>G (p.Asn285Lys) rs759242666 0.00001
NM_000251.3(MSH2):c.864G>C (p.Gln288His) rs1672951524 0.00001
NM_000251.3(MSH2):c.877A>G (p.Thr293Ala) rs1296650088 0.00001
NM_000251.3(MSH2):c.905T>C (p.Leu302Ser) rs63749914 0.00001
NM_000251.3(MSH2):c.982G>C (p.Ala328Pro) rs753237286 0.00001
NM_000251.3(MSH2):c.1012G>A (p.Gly338Arg) rs63751004
NM_000251.3(MSH2):c.1013G>C (p.Gly338Ala) rs587779065
NM_000251.3(MSH2):c.1019G>C (p.Arg340Thr) rs1673077413
NM_000251.3(MSH2):c.1023del (p.Val342fs) rs864622340
NM_000251.3(MSH2):c.1027A>G (p.Asn343Asp) rs587779961
NM_000251.3(MSH2):c.1029C>G (p.Asn343Lys) rs1060501995
NM_000251.3(MSH2):c.1042C>T (p.Gln348Ter) rs979212552
NM_000251.3(MSH2):c.1042del (p.Gln348fs) rs1553353233
NM_000251.3(MSH2):c.1043A>G (p.Gln348Arg) rs773177076
NM_000251.3(MSH2):c.1046C>T (p.Pro349Leu) rs587779067
NM_000251.3(MSH2):c.1069G>C (p.Glu357Gln) rs587779069
NM_000251.3(MSH2):c.1074G>C (p.Glu358Asp) rs1477257356
NM_000251.3(MSH2):c.1076+1G>A rs267607940
NM_000251.3(MSH2):c.1076G>C (p.Arg359Thr) rs63751604
NM_000251.3(MSH2):c.1077-1G>C rs267607944
NM_000251.3(MSH2):c.1098_1099insTC (p.Val367fs) rs2465986626
NM_000251.3(MSH2):c.1105G>A (p.Asp369Asn) rs1573484275
NM_000251.3(MSH2):c.1129C>T (p.Gln377Ter) rs63750267
NM_000251.3(MSH2):c.1131AGA[1] (p.Glu378del) rs1295803849
NM_000251.3(MSH2):c.1139T>G (p.Leu380Ter) rs730881755
NM_000251.3(MSH2):c.1141C>T (p.Leu381Phe) rs1573484556
NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter) rs587779075
NM_000251.3(MSH2):c.1172C>T (p.Ala391Val) rs864622674
NM_000251.3(MSH2):c.1191A>T (p.Gln397His) rs768694189
NM_000251.3(MSH2):c.11A>C (p.Gln4Pro) rs754562075
NM_000251.3(MSH2):c.1204C>G (p.Gln402Glu) rs63751412
NM_000251.3(MSH2):c.1208A>G (p.Asp403Gly) rs1344783415
NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter) rs63751108
NM_000251.3(MSH2):c.1225C>G (p.Gln409Glu) rs151244108
NM_000251.3(MSH2):c.1226A>G (p.Gln409Arg) rs2465996503
NM_000251.3(MSH2):c.1226_1227del (p.Gln409fs) rs63750086
NM_000251.3(MSH2):c.1237C>G (p.Gln413Glu) rs863225387
NM_000251.3(MSH2):c.1247_1257dup (p.Ala420fs) rs1553356720
NM_000251.3(MSH2):c.1250T>G (p.Val417Gly) rs876659846
NM_000251.3(MSH2):c.1255C>T (p.Gln419Ter) rs63750006
NM_000251.3(MSH2):c.1256A>G (p.Gln419Arg) rs2104443512
NM_000251.3(MSH2):c.1269dup (p.His424fs) rs63751667
NM_000251.3(MSH2):c.126C>G (p.Phe42Leu) rs730881766
NM_000251.3(MSH2):c.1276+2T>C rs267607953
NM_000251.3(MSH2):c.1277-11C>G rs752940278
NM_000251.3(MSH2):c.1282C>T (p.His428Tyr) rs1421473851
NM_000251.3(MSH2):c.1294T>A (p.Leu432Met) rs937218360
NM_000251.3(MSH2):c.1303G>C (p.Val435Leu) rs876658240
NM_000251.3(MSH2):c.1303G>T (p.Val435Phe) rs876658240
NM_000251.3(MSH2):c.1308dup (p.Val437fs) rs1060502035
NM_000251.3(MSH2):c.1309G>A (p.Val437Met) rs773956144
NM_000251.3(MSH2):c.1318C>T (p.Leu440Phe) rs1553361201
NM_000251.3(MSH2):c.131C>A (p.Thr44Lys) rs587779085
NM_000251.3(MSH2):c.1321A>T (p.Thr441Ser) rs587779086
NM_000251.3(MSH2):c.1331G>A (p.Arg444His) rs557339938
NM_000251.3(MSH2):c.1339_1340del (p.Phe447fs) rs1553361231
NM_000251.3(MSH2):c.1357A>G (p.Met453Val) rs1558493602
NM_000251.3(MSH2):c.1367C>T (p.Thr456Ile) rs777963115
NM_000251.3(MSH2):c.136C>T (p.His46Tyr) rs1553348821
NM_000251.3(MSH2):c.1375G>C (p.Asp459His) rs1553361295
NM_000251.3(MSH2):c.1394A>G (p.Asn465Ser) rs1487094949
NM_000251.3(MSH2):c.1396C>G (p.His466Asp) rs876658457
NM_000251.3(MSH2):c.1401del (p.Glu467fs) rs1553365711
NM_000251.3(MSH2):c.1427C>G (p.Pro476Arg) rs2104086490
NM_000251.3(MSH2):c.142G>T (p.Glu48Ter) rs63750615
NM_000251.3(MSH2):c.1432C>T (p.Leu478Phe) rs1051194508
NM_000251.3(MSH2):c.1446A>C (p.Arg482Ser) rs1553365751
NM_000251.3(MSH2):c.1453A>C (p.Met485Leu) rs775377647
NM_000251.3(MSH2):c.1457_1460del (p.Asn486fs) rs1114167806
NM_000251.3(MSH2):c.1474A>C (p.Met492Leu) rs774419666
NM_000251.3(MSH2):c.1476G>A (p.Met492Ile) rs1553365792
NM_000251.3(MSH2):c.147C>G (p.Asp49Glu) rs730881771
NM_000251.3(MSH2):c.1487T>C (p.Leu496Ser) rs587779093
NM_000251.3(MSH2):c.14C>T (p.Pro5Leu) rs56170584
NM_000251.3(MSH2):c.1510+2T>C rs1060502023
NM_000251.3(MSH2):c.1510G>T (p.Gly504Cys) rs63751600
NM_000251.3(MSH2):c.1511-2A>G rs267607962
NM_000251.3(MSH2):c.1520del (p.Pro507fs) rs1553366510
NM_000251.3(MSH2):c.1523G>A (p.Gly508Asp) rs786202710
NM_000251.3(MSH2):c.1527dup (p.Gln510fs) rs2528748371
NM_000251.3(MSH2):c.1533T>G (p.Ile511Met) rs1553366529
NM_000251.3(MSH2):c.1547G>T (p.Ser516Ile) rs373564353
NM_000251.3(MSH2):c.1552_1553del (p.Gln518fs) rs63749930
NM_000251.3(MSH2):c.1553A>T (p.Gln518Leu) rs763323368
NM_000251.3(MSH2):c.1562A>G (p.Tyr521Cys) rs879254040
NM_000251.3(MSH2):c.1563T>A (p.Tyr521Ter) rs63750330
NM_000251.3(MSH2):c.1571G>T (p.Arg524Leu) rs63751207
NM_000251.3(MSH2):c.1577C>A (p.Thr526Asn) rs1204369578
NM_000251.3(MSH2):c.1577C>G (p.Thr526Ser) rs1204369578
NM_000251.3(MSH2):c.1578del (p.Cys527fs) rs63750738
NM_000251.3(MSH2):c.1589A>C (p.Glu530Ala) rs1666901220
NM_000251.3(MSH2):c.1589A>G (p.Glu530Gly) rs1666901220
NM_000251.3(MSH2):c.158C>T (p.Ala53Val) rs1456393710
NM_000251.3(MSH2):c.1593A>C (p.Lys531Asn) rs1553366599
NM_000251.3(MSH2):c.1606A>G (p.Asn536Asp) rs2104180432
NM_000251.3(MSH2):c.160G>T (p.Ala54Ser) rs749212640
NM_000251.3(MSH2):c.1613dup (p.Asn538fs) rs1558511092
NM_000251.3(MSH2):c.1617T>A (p.Phe539Leu) rs730881759
NM_000251.3(MSH2):c.1618A>G (p.Ser540Gly) rs1268933712
NM_000251.3(MSH2):c.161C>T (p.Ala54Val) rs768661914
NM_000251.3(MSH2):c.1625T>C (p.Val542Ala) rs1553366630
NM_000251.3(MSH2):c.1631T>C (p.Ile544Thr) rs587778524
NM_000251.3(MSH2):c.1642G>T (p.Gly548Cys) rs63750538
NM_000251.3(MSH2):c.166G>A (p.Glu56Lys) rs587779102
NM_000251.3(MSH2):c.166G>C (p.Glu56Gln) rs587779102
NM_000251.3(MSH2):c.1686G>C (p.Glu562Asp) rs786203850
NM_000251.3(MSH2):c.1688A>G (p.Tyr563Cys) rs63751054
NM_000251.3(MSH2):c.1696A>C (p.Asn566His) rs2104275830
NM_000251.3(MSH2):c.1697del (p.Asn566fs) rs63750737
NM_000251.3(MSH2):c.1705_1706del (p.Glu569fs) rs63750393
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.174C>A (p.Phe58Leu) rs372189599
NM_000251.3(MSH2):c.174C>G (p.Phe58Leu) rs372189599
NM_000251.3(MSH2):c.1765G>A (p.Val589Ile) rs1064793981
NM_000251.3(MSH2):c.1777C>T (p.Gln593Ter) rs63750200
NM_000251.3(MSH2):c.1783C>T (p.Leu595Phe) rs1553368514
NM_000251.3(MSH2):c.1786_1788del (p.Asn596del) rs63749831
NM_000251.3(MSH2):c.1801C>T (p.Gln601Ter) rs63750047
NM_000251.3(MSH2):c.1808A>G (p.Asp603Gly) rs267607985
NM_000251.3(MSH2):c.1813G>A (p.Val605Ile) rs730881777
NM_000251.3(MSH2):c.1828C>T (p.His610Tyr) rs267607980
NM_000251.3(MSH2):c.1829A>G (p.His610Arg) rs1667236175
NM_000251.3(MSH2):c.1850_1851dup (p.Pro618fs) rs1573566787
NM_000251.3(MSH2):c.185G>C (p.Gly62Ala) rs879254195
NM_000251.3(MSH2):c.1861C>T (p.Arg621Ter) rs63750508
NM_000251.3(MSH2):c.187G>T (p.Val63Leu) rs1553348889
NM_000251.3(MSH2):c.1892G>A (p.Arg631Lys) rs1361816581
NM_000251.3(MSH2):c.190A>G (p.Ile64Val) rs1166747167
NM_000251.3(MSH2):c.1916A>C (p.His639Pro) rs587779116
NM_000251.3(MSH2):c.1934A>C (p.Gln645Pro) rs1573567208
NM_000251.3(MSH2):c.1939G>A (p.Glu647Lys) rs63750078
NM_000251.3(MSH2):c.1939G>C (p.Glu647Gln) rs63750078
NM_000251.3(MSH2):c.1943T>C (p.Ile648Thr) rs763100088
NM_000251.3(MSH2):c.1944T>G (p.Ile648Met) rs2104347342
NM_000251.3(MSH2):c.1945G>A (p.Ala649Thr) rs786201822
NM_000251.3(MSH2):c.1967A>C (p.Tyr656Ser) rs185356145
NM_000251.3(MSH2):c.1996A>G (p.Ile666Val) rs1667252115
NM_000251.3(MSH2):c.1997T>C (p.Ile666Thr) rs1667252310
NM_000251.3(MSH2):c.19G>C (p.Glu7Gln) rs375561490
NM_000251.3(MSH2):c.2004delinsCA (p.Gly669fs) rs876659961
NM_000251.3(MSH2):c.2006-2A>G rs267607991
NM_000251.3(MSH2):c.200T>A (p.Met67Lys) rs876660001
NM_000251.3(MSH2):c.2010dup (p.Asn671fs) rs63751123
NM_000251.3(MSH2):c.2015T>G (p.Met672Arg) rs786203126
NM_000251.3(MSH2):c.2032T>C (p.Tyr678His) rs876659093
NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter) rs63749932
NM_000251.3(MSH2):c.203G>A (p.Gly68Glu) rs1064795914
NM_000251.3(MSH2):c.2041C>G (p.Gln681Glu) rs730881762
NM_000251.3(MSH2):c.2043A>T (p.Gln681His) rs730881763
NM_000251.3(MSH2):c.2055A>G (p.Ile685Met) rs989001878
NM_000251.3(MSH2):c.2063T>C (p.Met688Thr) rs63749993
NM_000251.3(MSH2):c.2065G>A (p.Ala689Thr) rs914610419
NM_000251.3(MSH2):c.2074G>T (p.Gly692Trp) rs63750232
NM_000251.3(MSH2):c.2084T>C (p.Val695Ala) rs1667306822
NM_000251.3(MSH2):c.208G>A (p.Ala70Thr) rs587778522
NM_000251.3(MSH2):c.2090G>C (p.Cys697Ser) rs63750398
NM_000251.3(MSH2):c.2096C>G (p.Ser699Ter) rs587779136
NM_000251.3(MSH2):c.211+1G>A rs1114167883
NM_000251.3(MSH2):c.211+3G>T rs778940305
NM_000251.3(MSH2):c.211+5G>A rs1060501999
NM_000251.3(MSH2):c.211G>C (p.Gly71Arg) rs587782659
NM_000251.3(MSH2):c.212-1G>A rs267607914
NM_000251.3(MSH2):c.2120G>C (p.Cys707Ser) rs373226409
NM_000251.3(MSH2):c.2132G>T (p.Arg711Leu) rs138465383
NM_000251.3(MSH2):c.2134G>A (p.Val712Ile) rs1573570391
NM_000251.3(MSH2):c.2150G>A (p.Ser717Asn) rs752883472
NM_000251.3(MSH2):c.2152C>T (p.Gln718Ter) rs587779139
NM_000251.3(MSH2):c.2190G>T (p.Leu730Phe) rs864622370
NM_000251.3(MSH2):c.2195C>T (p.Thr732Ile) rs730881765
NM_000251.3(MSH2):c.2211-10T>A rs267608006
NM_000251.3(MSH2):c.2236_2237dup (p.Ile747fs) rs2528978803
NM_000251.3(MSH2):c.2239A>G (p.Ile747Val) rs1553369652
NM_000251.3(MSH2):c.2251G>A (p.Gly751Arg) rs63751119
NM_000251.3(MSH2):c.2258G>T (p.Gly753Val) rs1573573787
NM_000251.3(MSH2):c.2272G>A (p.Asp758Asn) rs876658254
NM_000251.3(MSH2):c.2279T>C (p.Phe760Ser) rs1573573888
NM_000251.3(MSH2):c.2288C>T (p.Ala763Val) rs144412585
NM_000251.3(MSH2):c.2293G>A (p.Ala765Thr) rs63750368
NM_000251.3(MSH2):c.2312C>A (p.Ala771Glu) rs2104403575
NM_000251.3(MSH2):c.2320A>G (p.Ile774Val) rs775464903
NM_000251.3(MSH2):c.2321T>C (p.Ile774Thr) rs878853811
NM_000251.3(MSH2):c.2321T>G (p.Ile774Ser) rs878853811
NM_000251.3(MSH2):c.2342del (p.Ala781fs) rs2528987038
NM_000251.3(MSH2):c.2347C>G (p.His783Asp) rs1553369748
NM_000251.3(MSH2):c.2347C>T (p.His783Tyr) rs1553369748
NM_000251.3(MSH2):c.2354A>C (p.His785Pro) rs200252727
NM_000251.3(MSH2):c.2354A>G (p.His785Arg) rs200252727
NM_000251.3(MSH2):c.2363del (p.Thr788fs) rs2104405789
NM_000251.3(MSH2):c.2365del (p.Ala789fs) rs2528988982
NM_000251.3(MSH2):c.2366C>G (p.Ala789Gly) rs876660292
NM_000251.3(MSH2):c.2366C>T (p.Ala789Val) rs876660292
NM_000251.3(MSH2):c.2375A>G (p.Asn792Ser) rs587782891
NM_000251.3(MSH2):c.2375A>T (p.Asn792Ile) rs587782891
NM_000251.3(MSH2):c.2386A>T (p.Thr796Ser) rs876660738
NM_000251.3(MSH2):c.23C>G (p.Thr8Arg) rs17217716
NM_000251.3(MSH2):c.2402A>G (p.His801Arg) rs1114167875
NM_000251.3(MSH2):c.2425G>T (p.Glu809Ter) rs202145681
NM_000251.3(MSH2):c.2435C>G (p.Thr812Ser) rs1553369826
NM_000251.3(MSH2):c.2453A>G (p.Lys818Arg) rs2104410075
NM_000251.3(MSH2):c.2462T>C (p.Val821Ala) rs1573578373
NM_000251.3(MSH2):c.247A>C (p.Met83Leu) rs766196837
NM_000251.3(MSH2):c.247A>G (p.Met83Val) rs766196837
NM_000251.3(MSH2):c.2487T>G (p.His829Gln) rs989510855
NM_000251.3(MSH2):c.2488G>T (p.Val830Phe) rs2104435779
NM_000251.3(MSH2):c.249G>C (p.Met83Ile) rs1672552199
NM_000251.3(MSH2):c.2502_2508del (p.Asn835fs) rs63751447
NM_000251.3(MSH2):c.2503A>G (p.Asn835Asp) rs41295296
NM_000251.3(MSH2):c.250A>T (p.Asn84Tyr) rs1573436418
NM_000251.3(MSH2):c.2519T>C (p.Val840Ala) rs1064794561
NM_000251.3(MSH2):c.2522T>C (p.Ile841Thr) rs1275767178
NM_000251.3(MSH2):c.2525A>G (p.Glu842Gly) rs373393954
NM_000251.3(MSH2):c.2525_2526del (p.Glu842fs) rs587779148
NM_000251.3(MSH2):c.2551C>G (p.Leu851Val) rs267608015
NM_000251.3(MSH2):c.2554GAG[1] (p.Glu853del) rs766906365
NM_000251.3(MSH2):c.2567A>G (p.Tyr856Cys) rs587779150
NM_000251.3(MSH2):c.2573G>C (p.Gly858Ala) rs2104439413
NM_000251.3(MSH2):c.257A>G (p.Glu86Gly) rs1573436455
NM_000251.3(MSH2):c.2595_2597del (p.Ile865del) rs759912716
NM_000251.3(MSH2):c.25C>G (p.Leu9Val) rs1672231681
NM_000251.3(MSH2):c.2629A>T (p.Arg877Ter) rs1667504677
NM_000251.3(MSH2):c.2633A>G (p.Glu878Gly) rs1573579250
NM_000251.3(MSH2):c.2634+1G>A rs267608019
NM_000251.3(MSH2):c.2634+5G>C rs267608017
NM_000251.3(MSH2):c.2635-1G>A rs267608020
NM_000251.3(MSH2):c.2635-24A>G rs1667575488
NM_000251.3(MSH2):c.2653C>T (p.Gln885Ter) rs63750808
NM_000251.3(MSH2):c.2680dup (p.Met894fs) rs876658211
NM_000251.3(MSH2):c.2684C>G (p.Pro895Arg) rs786203553
NM_000251.3(MSH2):c.2684C>T (p.Pro895Leu) rs786203553
NM_000251.3(MSH2):c.2693A>C (p.Glu898Ala) rs1060502037
NM_000251.3(MSH2):c.2697G>T (p.Met899Ile) rs878853813
NM_000251.3(MSH2):c.2725A>G (p.Lys909Glu) rs879254253
NM_000251.3(MSH2):c.2726A>T (p.Lys909Ile) rs34319539
NM_000251.3(MSH2):c.272A>C (p.Asp91Ala) rs876660914
NM_000251.3(MSH2):c.272A>T (p.Asp91Val) rs876660914
NM_000251.3(MSH2):c.2744T>C (p.Val915Ala) rs1399941088
NM_000251.3(MSH2):c.2786G>T (p.Arg929Leu) rs587779967
NM_000251.3(MSH2):c.2804G>T (p.Ter935Leu) rs876658335
NM_000251.3(MSH2):c.301_306del (p.Glu101_Val102del) rs587779157
NM_000251.3(MSH2):c.320C>G (p.Ala107Gly) rs876658935
NM_000251.3(MSH2):c.320C>T (p.Ala107Val) rs876658935
NM_000251.3(MSH2):c.323G>T (p.Gly108Val) rs1183145967
NM_000251.3(MSH2):c.335C>T (p.Ser112Phe) rs769215192
NM_000251.3(MSH2):c.34dup (p.Glu12fs) rs63750614
NM_000251.3(MSH2):c.35A>C (p.Glu12Ala) rs1553348722
NM_000251.3(MSH2):c.363T>G (p.Tyr121Ter) rs63750458
NM_000251.3(MSH2):c.367-3T>A rs1558458845
NM_000251.3(MSH2):c.374C>T (p.Pro125Leu) rs876659113
NM_000251.3(MSH2):c.386C>T (p.Ser129Phe) rs587779972
NM_000251.3(MSH2):c.387_388del (p.Gln130fs) rs63750924
NM_000251.3(MSH2):c.388C>T (p.Gln130Ter) rs1060501989
NM_000251.3(MSH2):c.388_389del (p.Gln130fs) rs63750704
NM_000251.3(MSH2):c.39C>G (p.Ser13Arg) rs1060502015
NM_000251.3(MSH2):c.403C>G (p.Leu135Val) rs193096019
NM_000251.3(MSH2):c.403C>T (p.Leu135Phe) rs193096019
NM_000251.3(MSH2):c.448_449del (p.Gly149_Val150insTer) rs2465704185
NM_000251.3(MSH2):c.449_454delinsCGGACATTT (p.Val150_Met152delinsAlaAspIleLeu) rs2465704459
NM_000251.3(MSH2):c.463del (p.Val155fs) rs1672664863
NM_000251.3(MSH2):c.464T>C (p.Val155Ala) rs876658188
NM_000251.3(MSH2):c.479A>G (p.Gln160Arg) rs1573440972
NM_000251.3(MSH2):c.47A>C (p.Glu16Ala) rs745771647
NM_000251.3(MSH2):c.488T>A (p.Val163Asp) rs63750214
NM_000251.3(MSH2):c.48G>C (p.Glu16Asp) rs1060502036
NM_000251.3(MSH2):c.496G>C (p.Val166Leu) rs1672668358
NM_000251.3(MSH2):c.506_508delinsCAA (p.Ile169_Gln170delinsThrLys) rs2104027960
NM_000251.3(MSH2):c.517C>G (p.Leu173Val) rs1176822890
NM_000251.3(MSH2):c.528_529del (p.Cys176_Glu177delinsTer) rs587779164
NM_000251.3(MSH2):c.536C>T (p.Pro179Leu) rs902336078
NM_000251.3(MSH2):c.557A>C (p.Asn186Thr) rs151129360
NM_000251.3(MSH2):c.560T>C (p.Leu187Pro) rs63751444
NM_000251.3(MSH2):c.562G>C (p.Glu188Gln) rs1064795622
NM_000251.3(MSH2):c.56T>C (p.Phe19Ser) rs1320061495
NM_000251.3(MSH2):c.576C>G (p.Ile192Met) rs864622381
NM_000251.3(MSH2):c.58G>C (p.Val20Leu) rs1198168331
NM_000251.3(MSH2):c.592G>A (p.Glu198Lys) rs587779166
NM_000251.3(MSH2):c.592G>T (p.Glu198Ter) rs587779166
NM_000251.3(MSH2):c.645+2T>C rs876658996
NM_000251.3(MSH2):c.646-2A>G rs587779169
NM_000251.3(MSH2):c.647T>C (p.Ile216Thr) rs786203108
NM_000251.3(MSH2):c.647_648insTG (p.Ile217fs) rs2465747218
NM_000251.3(MSH2):c.652C>A (p.Gln218Lys) rs587779170
NM_000251.3(MSH2):c.66C>G (p.Phe22Leu) rs200632093
NM_000251.3(MSH2):c.687del (p.Ala230fs) rs63749897
NM_000251.3(MSH2):c.687dup (p.Ala230fs) rs63749897
NM_000251.3(MSH2):c.689C>A (p.Ala230Asp) rs1553351592
NM_000251.3(MSH2):c.690_693delinsCT (p.Asp231fs) rs2465749324
NM_000251.3(MSH2):c.698C>G (p.Ser233Cys) rs587781724
NM_000251.3(MSH2):c.713A>T (p.Tyr238Phe) rs1553351618
NM_000251.3(MSH2):c.726C>G (p.Asn242Lys) rs748427458
NM_000251.3(MSH2):c.748G>T (p.Gly250Ter) rs864622183
NM_000251.3(MSH2):c.751G>A (p.Glu251Lys) rs147389443
NM_000251.3(MSH2):c.755A>C (p.Gln252Pro) rs370906735
NM_000251.3(MSH2):c.781A>T (p.Met261Leu) rs786201941
NM_000251.3(MSH2):c.784G>C (p.Glu262Gln) rs1553351739
NM_000251.3(MSH2):c.793-1G>A rs863225397
NM_000251.3(MSH2):c.793G>T (p.Val265Phe) rs1553352377
NM_000251.3(MSH2):c.7G>A (p.Val3Met) rs1257347271
NM_000251.3(MSH2):c.7G>T (p.Val3Leu) rs1257347271
NM_000251.3(MSH2):c.811_814del (p.Ser271fs) rs587779185
NM_000251.3(MSH2):c.830T>G (p.Leu277Ter) rs786203424
NM_000251.3(MSH2):c.839dup (p.Leu280fs) rs63750091
NM_000251.3(MSH2):c.845_848del (p.Asp282fs) rs1553352462
NM_000251.3(MSH2):c.857T>C (p.Phe286Ser) rs1672950637
NM_000251.3(MSH2):c.860dup (p.Gln288fs) rs193922375
NM_000251.3(MSH2):c.866_867dup (p.Glu290fs) rs1672951706
NM_000251.3(MSH2):c.868G>T (p.Glu290Ter) rs587779190
NM_000251.3(MSH2):c.870A>C (p.Glu290Asp) rs2104173414
NM_000251.3(MSH2):c.870_874del (p.Glu290fs) rs1114167848
NM_000251.3(MSH2):c.876dup (p.Thr293fs) rs1553352505
NM_000251.3(MSH2):c.888C>G (p.Phe296Leu) rs876659918
NM_000251.3(MSH2):c.896A>G (p.Tyr299Cys) rs1558464315
NM_000251.3(MSH2):c.898A>G (p.Met300Val) rs730881753
NM_000251.3(MSH2):c.898_899dup (p.Met300fs) rs63750885
NM_000251.3(MSH2):c.89C>T (p.Pro30Leu) rs757892928
NM_000251.3(MSH2):c.904T>A (p.Leu302Met) rs876660115
NM_000251.3(MSH2):c.932del (p.Asn311fs) rs587779979
NM_000251.3(MSH2):c.942+3A>C rs193922376
NM_000251.3(MSH2):c.942+3A>G rs193922376
NM_000251.3(MSH2):c.943-1G>T rs12476364
NM_000251.3(MSH2):c.959C>G (p.Thr320Ser) rs1064794010
NM_000251.3(MSH2):c.95C>T (p.Thr32Ile) rs552361923
NM_000251.3(MSH2):c.964G>A (p.Gly322Ser) rs773301485
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.998G>A (p.Cys333Tyr) rs63750828

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