ClinVar Miner

List of variants in gene MSH2 reported by Sema4, Sema4

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Gene type:
ClinVar version:
Total variants: 261
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HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.211+9C>G rs2303426 0.55454
NM_000251.2(MSH2):c.-118T>C rs2303425 0.10354
NM_000251.3(MSH2):c.2006-6T>C rs2303428 0.08349
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser) rs17217772 0.02317
NM_000251.3(MSH2):c.573C>T (p.Leu191=) rs1800151 0.01972
NM_000251.3(MSH2):c.965G>A (p.Gly322Asp) rs4987188 0.01714
NM_000251.3(MSH2):c.1077-229C>T rs148883469 0.00492
NM_000251.3(MSH2):c.1666T>C (p.Leu556=) rs61756466 0.00471
NM_000251.3(MSH2):c.339G>A (p.Lys113=) rs35898375 0.00313
NM_000251.3(MSH2):c.*226A>G rs17225060 0.00201
NM_000251.3(MSH2):c.23C>T (p.Thr8Met) rs17217716 0.00184
NM_000251.3(MSH2):c.1277-8T>C rs145400590 0.00159
NM_000251.3(MSH2):c.1387-8G>T rs187525243 0.00143
NM_000251.3(MSH2):c.1737A>G (p.Lys579=) rs61756467 0.00138
NM_000251.3(MSH2):c.819A>G (p.Val273=) rs146577635 0.00101
NM_000251.3(MSH2):c.1759+57G>T rs17218363 0.00089
NM_000251.3(MSH2):c.942+3A>T rs193922376 0.00072
NM_000251.3(MSH2):c.55T>C (p.Phe19Leu) rs141711342 0.00063
NM_000251.3(MSH2):c.1563T>C (p.Tyr521=) rs63750330 0.00053
NM_000251.3(MSH2):c.815C>T (p.Ala272Val) rs34136999 0.00046
NM_000251.3(MSH2):c.1680T>C (p.Asn560=) rs200056411 0.00043
NM_000251.3(MSH2):c.1886A>G (p.Gln629Arg) rs61756468 0.00042
NM_000251.3(MSH2):c.1168C>T (p.Leu390Phe) rs17224367 0.00039
NM_000251.3(MSH2):c.1511-41G>C rs202215396 0.00038
NM_000251.3(MSH2):c.2154A>G (p.Gln718=) rs63750810 0.00033
NM_000251.3(MSH2):c.435T>G (p.Ile145Met) rs63750124 0.00031
NM_000251.3(MSH2):c.1277-638G>T rs547000881 0.00026
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser) rs41295288 0.00022
NM_000251.3(MSH2):c.1255C>A (p.Gln419Lys) rs63750006 0.00019
NM_000251.3(MSH2):c.138C>G (p.His46Gln) rs33946261 0.00019
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr) rs63749910 0.00018
NM_000251.3(MSH2):c.1275A>G (p.Glu425=) rs63751650 0.00016
NM_000251.3(MSH2):c.1748A>G (p.Asn583Ser) rs201118107 0.00014
NM_000251.3(MSH2):c.766G>A (p.Ala256Thr) rs377403073 0.00014
NM_000251.3(MSH2):c.2425G>A (p.Glu809Lys) rs202145681 0.00013
NM_000251.3(MSH2):c.505A>G (p.Ile169Val) rs63750716 0.00013
NM_000251.3(MSH2):c.1387-4G>C rs376796243 0.00011
NM_000251.3(MSH2):c.1790A>C (p.Asp597Ala) rs548407418 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_000251.3(MSH2):c.2785C>T (p.Arg929Ter) rs551060742 0.00011
NM_000251.3(MSH2):c.557A>G (p.Asn186Ser) rs151129360 0.00011
NM_000251.3(MSH2):c.1386+23T>G rs747646424 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.2367C>T (p.Ala789=) rs786202414 0.00009
NM_000251.3(MSH2):c.2802G>A (p.Thr934=) rs150259097 0.00009
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_000251.3(MSH2):c.1690A>G (p.Thr564Ala) rs55778204 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_000251.3(MSH2):c.913G>A (p.Ala305Thr) rs63751454 0.00008
NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala) rs267607939 0.00007
NM_000251.3(MSH2):c.1087G>T (p.Val363Leu) rs377345366 0.00007
NM_000251.3(MSH2):c.1560A>G (p.Gly520=) rs63750820 0.00007
NM_000251.3(MSH2):c.1638G>A (p.Lys546=) rs372350768 0.00007
NM_000251.3(MSH2):c.2732T>G (p.Leu911Arg) rs41295182 0.00007
NM_000251.3(MSH2):c.642A>G (p.Arg214=) rs768931909 0.00007
NM_000251.3(MSH2):c.1077-7A>G rs370807334 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.499G>C (p.Asp167His) rs63750255 0.00006
NM_000251.3(MSH2):c.944G>T (p.Gly315Val) rs202026056 0.00006
NM_000251.3(MSH2):c.1774A>G (p.Met592Val) rs371614039 0.00005
NM_000251.3(MSH2):c.843A>T (p.Ser281=) rs150197753 0.00005
NM_000251.3(MSH2):c.1238A>C (p.Gln413Pro) rs587779962 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.2580G>A (p.Ser860=) rs752428475 0.00004
NM_000251.3(MSH2):c.336C>A (p.Ser112=) rs34312619 0.00004
NM_000251.3(MSH2):c.576C>T (p.Ile192=) rs864622381 0.00004
NM_000251.3(MSH2):c.607G>A (p.Gly203Arg) rs587779973 0.00004
NM_000251.3(MSH2):c.1429A>C (p.Asn477His) rs587781346 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.1906G>C (p.Ala636Pro) rs63750875 0.00003
NM_000251.3(MSH2):c.2120G>A (p.Cys707Tyr) rs373226409 0.00003
NM_000251.3(MSH2):c.2517T>A (p.His839Gln) rs267608016 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.409G>C (p.Gly137Arg) rs587781795 0.00003
NM_000251.3(MSH2):c.84G>A (p.Glu28=) rs752220575 0.00003
NM_000251.3(MSH2):c.1014A>C (p.Gly338=) rs774083607 0.00002
NM_000251.3(MSH2):c.1131A>G (p.Gln377=) rs181852377 0.00002
NM_000251.3(MSH2):c.1681G>A (p.Glu561Lys) rs63750328 0.00002
NM_000251.3(MSH2):c.2061C>G (p.Leu687=) rs63750032 0.00002
NM_000251.3(MSH2):c.2393A>C (p.Asn798Thr) rs786204073 0.00002
NM_000251.3(MSH2):c.2635-11A>G rs201291595 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_000251.3(MSH2):c.964G>A (p.Gly322Ser) rs773301485 0.00002
NM_000251.3(MSH2):c.105C>A (p.Arg35=) rs775554736 0.00001
NM_000251.3(MSH2):c.10C>A (p.Gln4Lys) rs878853797 0.00001
NM_000251.3(MSH2):c.1145G>A (p.Arg382His) rs267607947 0.00001
NM_000251.3(MSH2):c.1223A>G (p.Tyr408Cys) rs63750379 0.00001
NM_000251.3(MSH2):c.129T>C (p.Tyr43=) rs63750894 0.00001
NM_000251.3(MSH2):c.1301C>T (p.Ala434Val) rs768070717 0.00001
NM_000251.3(MSH2):c.1344C>T (p.Ser448=) rs1010360604 0.00001
NM_000251.3(MSH2):c.1356A>G (p.Glu452=) rs63751212 0.00001
NM_000251.3(MSH2):c.1379T>C (p.Met460Thr) rs1553361303 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.1657A>T (p.Asn553Tyr) rs772772789 0.00001
NM_000251.3(MSH2):c.186G>A (p.Gly62=) rs750058876 0.00001
NM_000251.3(MSH2):c.1897A>G (p.Ile633Val) rs771695599 0.00001
NM_000251.3(MSH2):c.1962C>T (p.Asp654=) rs751939698 0.00001
NM_000251.3(MSH2):c.2006-4G>A rs369853630 0.00001
NM_000251.3(MSH2):c.2082T>C (p.Phe694=) rs748210094 0.00001
NM_000251.3(MSH2):c.212-3A>T rs879255341 0.00001
NM_000251.3(MSH2):c.2164G>A (p.Val722Ile) rs587781996 0.00001
NM_000251.3(MSH2):c.2172G>A (p.Thr724=) rs370636719 0.00001
NM_000251.3(MSH2):c.2197G>A (p.Ala733Thr) rs772662439 0.00001
NM_000251.3(MSH2):c.2319G>C (p.Lys773Asn) rs745528772 0.00001
NM_000251.3(MSH2):c.2439G>A (p.Met813Ile) rs587781678 0.00001
NM_000251.3(MSH2):c.2525A>T (p.Glu842Val) rs373393954 0.00001
NM_000251.3(MSH2):c.2542G>T (p.Ala848Ser) rs746972142 0.00001
NM_000251.3(MSH2):c.2593A>G (p.Ile865Val) rs1013401625 0.00001
NM_000251.3(MSH2):c.2595C>T (p.Ile865=) rs547695133 0.00001
NM_000251.3(MSH2):c.2640T>C (p.Gly880=) rs1368565489 0.00001
NM_000251.3(MSH2):c.2798C>T (p.Thr933Ile) rs587779968 0.00001
NM_000251.3(MSH2):c.286C>T (p.Arg96Cys) rs1443234544 0.00001
NM_000251.3(MSH2):c.375T>G (p.Pro125=) rs1427268231 0.00001
NM_000251.3(MSH2):c.459C>T (p.Ser153=) rs63751065 0.00001
NM_000251.3(MSH2):c.517C>G (p.Leu173Val) rs1176822890 0.00001
NM_000251.3(MSH2):c.646-3T>C rs267607930 0.00001
NM_000251.3(MSH2):c.693C>T (p.Asp231=) rs541325199 0.00001
NM_000251.3(MSH2):c.714T>C (p.Tyr238=) rs369670665 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.816G>A (p.Ala272=) rs368912987 0.00001
NM_000251.3(MSH2):c.951T>A (p.Val317=) rs1553353105 0.00001
NM_000251.3(MSH2):c.956A>T (p.Asp319Val) rs786204185 0.00001
NM_000251.3(MSH2):c.972G>A (p.Gln324=) rs63750505 0.00001
NM_000251.3(MSH2):c.1032G>A (p.Gln344=) rs375799148
NM_000251.3(MSH2):c.1062C>T (p.Asn354=) rs876659861
NM_000251.3(MSH2):c.1076+164A>G rs1673090801
NM_000251.3(MSH2):c.1076+171del rs17217884
NM_000251.3(MSH2):c.1077-1G>C rs267607944
NM_000251.3(MSH2):c.1083T>C (p.Asn361=) rs864622544
NM_000251.3(MSH2):c.1139T>C (p.Leu380Ser) rs730881755
NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter) rs587779075
NM_000251.3(MSH2):c.1204C>G (p.Gln402Glu) rs63751412
NM_000251.3(MSH2):c.1272T>C (p.His424=) rs1553356754
NM_000251.3(MSH2):c.131C>T (p.Thr44Met) rs587779085
NM_000251.3(MSH2):c.1322C>T (p.Thr441Ile) rs1553361210
NM_000251.3(MSH2):c.132G>C (p.Thr44=) rs766856128
NM_000251.3(MSH2):c.1387-14_1387-11del rs370436680
NM_000251.3(MSH2):c.1387-5T>C rs757458333
NM_000251.3(MSH2):c.149C>A (p.Ala50Glu) rs876658582
NM_000251.3(MSH2):c.149C>G (p.Ala50Gly) rs876658582
NM_000251.3(MSH2):c.1530G>T (p.Gln510His) rs587782355
NM_000251.3(MSH2):c.1580G>C (p.Cys527Ser) rs1553366585
NM_000251.3(MSH2):c.160G>A (p.Ala54Thr) rs749212640
NM_000251.3(MSH2):c.161_162insGCAGAACGTGGTCGTGG (p.Arg55fs) rs2103878331
NM_000251.3(MSH2):c.1625T>C (p.Val542Ala) rs1553366630
NM_000251.3(MSH2):c.164_165insC (p.Glu56fs) rs2103878687
NM_000251.3(MSH2):c.165G>C (p.Arg55=) rs772201676
NM_000251.3(MSH2):c.1662-18T>C rs376235435
NM_000251.3(MSH2):c.168_169insTCGATGGGCCTGGGCACC (p.Glu56_Val57insSerMetGlyLeuGlyThr) rs2103879063
NM_000251.3(MSH2):c.16A>G (p.Lys6Glu) rs777351049
NM_000251.3(MSH2):c.170_171insCTACCTCGGCTCGATCCTCGCCGATCCGCGCCCA (p.Phe58fs) rs2103879195
NM_000251.3(MSH2):c.1746C>T (p.Val582=) rs786201486
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.1770A>G (p.Glu590=) rs760619442
NM_000251.3(MSH2):c.182A>T (p.Gln61Leu) rs587779113
NM_000251.3(MSH2):c.184G>A (p.Gly62Arg) rs767140240
NM_000251.3(MSH2):c.1852C>G (p.Pro618Ala) rs1573566801
NM_000251.3(MSH2):c.1861C>T (p.Arg621Ter) rs63750508
NM_000251.3(MSH2):c.1892G>A (p.Arg631Lys) rs1361816581
NM_000251.3(MSH2):c.1920T>C (p.Ala640=) rs1667244960
NM_000251.3(MSH2):c.1922G>A (p.Cys641Tyr) rs786204110
NM_000251.3(MSH2):c.192C>A (p.Ile64=) rs1395172053
NM_000251.3(MSH2):c.1937A>G (p.Asp646Gly) rs41295290
NM_000251.3(MSH2):c.1962C>G (p.Asp654Glu) rs751939698
NM_000251.3(MSH2):c.1965A>G (p.Val655=) rs767941059
NM_000251.3(MSH2):c.1967A>C (p.Tyr656Ser) rs185356145
NM_000251.3(MSH2):c.1A>C (p.Met1Leu) rs267607911
NM_000251.3(MSH2):c.2005+4A>C rs1337550192
NM_000251.3(MSH2):c.2015T>G (p.Met672Arg) rs786203126
NM_000251.3(MSH2):c.2033A>G (p.Tyr678Cys) rs1553369025
NM_000251.3(MSH2):c.2072T>C (p.Ile691Thr) rs754824872
NM_000251.3(MSH2):c.2113del (p.Val705fs) rs63749811
NM_000251.3(MSH2):c.212-9T>C rs1573436092
NM_000251.3(MSH2):c.2121C>T (p.Cys707=) rs1553369139
NM_000251.3(MSH2):c.2160A>G (p.Lys720=) rs2104376970
NM_000251.3(MSH2):c.2164G>T (p.Val722Phe) rs587781996
NM_000251.3(MSH2):c.2166C>T (p.Val722=) rs1057520969
NM_000251.3(MSH2):c.2260A>G (p.Thr754Ala) rs757268664
NM_000251.3(MSH2):c.2268C>G (p.Thr756=) rs1404389752
NM_000251.3(MSH2):c.2314A>G (p.Thr772Ala) rs1573574121
NM_000251.3(MSH2):c.2321T>C (p.Ile774Thr) rs878853811
NM_000251.3(MSH2):c.2417C>T (p.Thr806Ile) rs758889557
NM_000251.3(MSH2):c.2455A>G (p.Lys819Glu) rs1369739730
NM_000251.3(MSH2):c.2482A>G (p.Ile828Val) rs2104435467
NM_000251.3(MSH2):c.2492C>T (p.Ala831Val) rs1169809892
NM_000251.3(MSH2):c.2503A>G (p.Asn835Asp) rs41295296
NM_000251.3(MSH2):c.2533A>G (p.Lys845Glu) rs63750571
NM_000251.3(MSH2):c.2572G>A (p.Gly858Arg) rs754533481
NM_000251.3(MSH2):c.2576_2584del (p.Glu859_Gln861del) rs587781278
NM_000251.3(MSH2):c.2635-24A>G rs1667575488
NM_000251.3(MSH2):c.2693A>C (p.Glu898Ala) rs1060502037
NM_000251.3(MSH2):c.2714C>T (p.Thr905Ile) rs267608022
NM_000251.3(MSH2):c.273TCT[2] (p.Leu94del) rs267607919
NM_000251.3(MSH2):c.2748A>G (p.Ile916Met) rs2104462090
NM_000251.3(MSH2):c.2782T>C (p.Ser928Pro) rs587781852
NM_000251.3(MSH2):c.2801C>T (p.Thr934Met) rs587779969
NM_000251.3(MSH2):c.2804G>T (p.Ter935Leu) rs876658335
NM_000251.3(MSH2):c.374C>T (p.Pro125Leu) rs876659113
NM_000251.3(MSH2):c.39C>A (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.430T>G (p.Ser144Ala) rs1672660930
NM_000251.3(MSH2):c.45C>T (p.Ala15=) rs876659170
NM_000251.3(MSH2):c.484G>A (p.Gly162Arg) rs63750624
NM_000251.3(MSH2):c.524T>C (p.Leu175Pro) rs63751291
NM_000251.3(MSH2):c.54C>T (p.Gly18=) rs63750777
NM_000251.3(MSH2):c.564G>C (p.Glu188Asp) rs1553350883
NM_000251.3(MSH2):c.589A>G (p.Lys197Glu) rs778573140
NM_000251.3(MSH2):c.606C>G (p.Pro202=) rs63750600
NM_000251.3(MSH2):c.606C>T (p.Pro202=) rs63750600
NM_000251.3(MSH2):c.617C>G (p.Thr206Ser) rs876658623
NM_000251.3(MSH2):c.646-5A>C rs1400699567
NM_000251.3(MSH2):c.657A>G (p.Arg219=) rs2104099323
NM_000251.3(MSH2):c.67T>C (p.Phe23Leu) rs372619120
NM_000251.3(MSH2):c.686A>T (p.Lys229Ile) rs2104101566
NM_000251.3(MSH2):c.6G>C (p.Ala2=) rs368270856
NM_000251.3(MSH2):c.6G>T (p.Ala2=) rs368270856
NM_000251.3(MSH2):c.704A>C (p.Lys235Thr) rs2104103015
NM_000251.3(MSH2):c.708C>T (p.Asp236=) rs1553351613
NM_000251.3(MSH2):c.743A>G (p.Lys248Arg) rs1064794704
NM_000251.3(MSH2):c.75C>T (p.Gly25=) rs1465620610
NM_000251.3(MSH2):c.768T>C (p.Ala256=) rs891676803
NM_000251.3(MSH2):c.812C>G (p.Ser271Cys) rs139891783
NM_000251.3(MSH2):c.919G>T (p.Val307Phe) rs1672956447
NM_000251.3(MSH2):c.942+14_942+29del rs11309117
NM_000251.3(MSH2):c.942+16_942+29del rs11309117
NM_000251.3(MSH2):c.942+17_942+29del rs11309117
NM_000251.3(MSH2):c.942+18_942+29del rs11309117
NM_000251.3(MSH2):c.942+19_942+29del rs11309117
NM_000251.3(MSH2):c.942+20_942+29del rs11309117
NM_000251.3(MSH2):c.942+21_942+29del rs11309117
NM_000251.3(MSH2):c.942+22_942+29del rs11309117
NM_000251.3(MSH2):c.942+23_942+29del rs11309117
NM_000251.3(MSH2):c.942+24_942+29del rs11309117
NM_000251.3(MSH2):c.942+25_942+29del rs11309117
NM_000251.3(MSH2):c.942+26_942+29del rs11309117
NM_000251.3(MSH2):c.942+27_942+29del rs11309117
NM_000251.3(MSH2):c.942+28_942+29del rs11309117
NM_000251.3(MSH2):c.942+29del rs11309117
NM_000251.3(MSH2):c.954A>G (p.Glu318=) rs2104242942
NM_000251.3(MSH2):c.959C>G (p.Thr320Ser) rs1064794010
NM_000251.3(MSH2):c.968C>T (p.Ser323Phe) rs63750732
NM_000251.3(MSH2):c.998G>A (p.Cys333Tyr) rs63750828

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