ClinVar Miner

List of variants in gene MSH2 reported by Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital

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Gene type:
ClinVar version:
Total variants: 209
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HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.2005+42G>T rs17218446 0.03590
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.1077-10T>C rs17224360 0.01428
NM_000251.3(MSH2):c.2766T>C (p.Phe922=) rs55859129 0.01118
NM_000251.3(MSH2):c.984C>T (p.Ala328=) rs4987189 0.00495
NM_000251.3(MSH2):c.1666T>C (p.Leu556=) rs61756466 0.00471
NM_000251.3(MSH2):c.1662-9G>A rs17218356 0.00398
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.1511-29T>C rs186239388 0.00076
NM_000251.3(MSH2):c.646-46del rs752468406 0.00073
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.2005+49T>G rs201999276 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.2005+47T>G rs751227018 0.00030
NM_000251.3(MSH2):c.471C>A (p.Gly157=) rs61756463 0.00029
NM_000251.3(MSH2):c.1277-16T>C rs368653974 0.00024
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser) rs41295288 0.00022
NM_000251.3(MSH2):c.2005+48_2005+49insG rs554890815 0.00022
NM_000251.3(MSH2):c.1276+47T>A rs148018406 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.2005+50T>G rs554780147 0.00017
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.367-27A>C rs369231703 0.00014
NM_000251.3(MSH2):c.505A>G (p.Ile169Val) rs63750716 0.00013
NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys) rs17217723 0.00011
NM_000251.3(MSH2):c.198C>T (p.Tyr66=) rs730881784 0.00011
NM_000251.3(MSH2):c.2006-47C>T rs377575976 0.00011
NM_000251.3(MSH2):c.2203A>G (p.Ile735Val) rs2229061 0.00011
NM_000251.3(MSH2):c.2785C>T (p.Arg929Ter) rs551060742 0.00011
NM_000251.3(MSH2):c.508C>G (p.Gln170Glu) rs63750843 0.00011
NM_000251.3(MSH2):c.1386+23T>G rs747646424 0.00010
NM_000251.3(MSH2):c.2210+7G>T rs374675118 0.00010
NM_000251.3(MSH2):c.-29C>T rs199841800 0.00009
NM_000251.3(MSH2):c.317G>A (p.Arg106Lys) rs41295286 0.00009
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.1045C>G (p.Pro349Ala) rs267607939 0.00007
NM_000251.3(MSH2):c.1560A>G (p.Gly520=) rs63750820 0.00007
NM_000251.3(MSH2):c.2732T>G (p.Leu911Arg) rs41295182 0.00007
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.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.1830C>T (p.His610=) rs766326295 0.00004
NM_000251.3(MSH2):c.2211-6C>A rs267608003 0.00004
NM_000251.3(MSH2):c.1366A>G (p.Thr456Ala) rs758636279 0.00003
NM_000251.3(MSH2):c.2120G>A (p.Cys707Tyr) rs373226409 0.00003
NM_000251.3(MSH2):c.2205C>T (p.Ile735=) rs533553381 0.00003
NM_000251.3(MSH2):c.594A>G (p.Glu198=) rs369685768 0.00003
NM_000251.3(MSH2):c.817G>A (p.Val273Ile) rs530814648 0.00003
NM_000251.3(MSH2):c.835C>G (p.Leu279Val) rs375351205 0.00003
NM_000251.3(MSH2):c.1276+7A>G rs748554540 0.00002
NM_000251.3(MSH2):c.2006-36_2006-33dup rs587779126 0.00002
NM_000251.3(MSH2):c.2362A>C (p.Thr788Pro) rs774440277 0.00002
NM_000251.3(MSH2):c.2379G>T (p.Gln793His) rs767520406 0.00002
NM_000251.3(MSH2):c.2635-11A>G rs201291595 0.00002
NM_000251.3(MSH2):c.2777T>A (p.Ile926Asn) rs199747712 0.00002
NM_000251.3(MSH2):c.1077-3C>T rs758182607 0.00001
NM_000251.3(MSH2):c.10C>A (p.Gln4Lys) rs878853797 0.00001
NM_000251.3(MSH2):c.1360A>G (p.Ile454Val) rs587781627 0.00001
NM_000251.3(MSH2):c.146A>T (p.Asp49Val) rs63750335 0.00001
NM_000251.3(MSH2):c.1759+9A>C rs994093288 0.00001
NM_000251.3(MSH2):c.2005+46T>G rs1005837916 0.00001
NM_000251.3(MSH2):c.2006-4G>A rs369853630 0.00001
NM_000251.3(MSH2):c.2164G>A (p.Val722Ile) rs587781996 0.00001
NM_000251.3(MSH2):c.2211-36A>G rs772752045 0.00001
NM_000251.3(MSH2):c.2211-7G>A rs764972956 0.00001
NM_000251.3(MSH2):c.366+39A>G rs761928912 0.00001
NM_000251.3(MSH2):c.646-3T>C rs267607930 0.00001
NM_000251.3(MSH2):c.728G>A (p.Arg243Gln) rs63751455 0.00001
NM_000251.3(MSH2):c.972G>A (p.Gln324=) rs63750505 0.00001
NM_000251.3(MSH2):c.992A>G (p.Asn331Ser) rs779673318 0.00001
NM_000251.3(MSH2):c.*10_*12del rs764232113
NM_000251.3(MSH2):c.*24G>A
NM_000251.3(MSH2):c.*45C>G
NM_000251.3(MSH2):c.*47G>A rs1196239075
NM_000251.3(MSH2):c.1072G>T (p.Glu358Ter)
NM_000251.3(MSH2):c.1076+24G>A
NM_000251.3(MSH2):c.1077-32A>T
NM_000251.3(MSH2):c.1077-42A>T
NM_000251.3(MSH2):c.1094C>A (p.Ala365Asp) rs1242235025
NM_000251.3(MSH2):c.1191A>T (p.Gln397His) rs768694189
NM_000251.3(MSH2):c.1276+23del rs587779081
NM_000251.3(MSH2):c.1277-11C>G
NM_000251.3(MSH2):c.1277-33T>G
NM_000251.3(MSH2):c.1279A>G (p.Lys427Glu) rs2103752001
NM_000251.3(MSH2):c.1294T>A (p.Leu432Met) rs937218360
NM_000251.3(MSH2):c.1327C>G (p.Leu443Val) rs876659906
NM_000251.3(MSH2):c.1344C>G (p.Ser448=) rs1010360604
NM_000251.3(MSH2):c.1387-31A>G
NM_000251.3(MSH2):c.1510+47C>G
NM_000251.3(MSH2):c.1661+17T>G rs377461923
NM_000251.3(MSH2):c.1661+1G>A rs267607969
NM_000251.3(MSH2):c.166G>A (p.Glu56Lys) rs587779102
NM_000251.3(MSH2):c.1728C>T (p.Ala576=) rs1410386885
NM_000251.3(MSH2):c.1760-30T>G
NM_000251.3(MSH2):c.1760-33C>A
NM_000251.3(MSH2):c.1760-4A>G rs1060504409
NM_000251.3(MSH2):c.1786_1788del (p.Asn596del) rs63749831
NM_000251.3(MSH2):c.1816G>T (p.Val606Phe)
NM_000251.3(MSH2):c.1829A>C (p.His610Pro)
NM_000251.3(MSH2):c.1845A>G (p.Ala615=) rs2104341053
NM_000251.3(MSH2):c.1890A>G (p.Gly630=) rs778523544
NM_000251.3(MSH2):c.190A>G (p.Ile64Val) rs1166747167
NM_000251.3(MSH2):c.1948T>C (p.Phe650Leu)
NM_000251.3(MSH2):c.195del (p.Lys65fs)
NM_000251.3(MSH2):c.1986del (p.Met663fs) rs63749929
NM_000251.3(MSH2):c.2005+22C>T
NM_000251.3(MSH2):c.2005+42_2005+43del rs1491316715
NM_000251.3(MSH2):c.2005+42_2005+44del rs368297956
NM_000251.3(MSH2):c.2005+42del
NM_000251.3(MSH2):c.2005+46_2005+47insC
NM_000251.3(MSH2):c.2005+46_2005+47insG
NM_000251.3(MSH2):c.2005+60_2005+61del rs76761634
NM_000251.3(MSH2):c.2005+60_2005+61dup rs76761634
NM_000251.3(MSH2):c.2005+61del
NM_000251.3(MSH2):c.2005+61dup
NM_000251.3(MSH2):c.2006-1G>T rs267607988
NM_000251.3(MSH2):c.211+26G>T
NM_000251.3(MSH2):c.212-4del rs746333570
NM_000251.3(MSH2):c.212-4dup rs746333570
NM_000251.3(MSH2):c.212-50C>T
NM_000251.3(MSH2):c.212-5_212-4del rs746333570
NM_000251.3(MSH2):c.212-6_212-4del
NM_000251.3(MSH2):c.2168C>T (p.Ser723Phe) rs63750794
NM_000251.3(MSH2):c.2201C>G (p.Ser734Cys) rs1553369204
NM_000251.3(MSH2):c.2211-19A>G rs770675668
NM_000251.3(MSH2):c.2229A>G (p.Ser743=)
NM_000251.3(MSH2):c.2424A>G (p.Glu808=) rs876660231
NM_000251.3(MSH2):c.2458+1G>C
NM_000251.3(MSH2):c.2458+51dup
NM_000251.3(MSH2):c.2459-21G>A
NM_000251.3(MSH2):c.2459-22C>T
NM_000251.3(MSH2):c.2459-31G>C
NM_000251.3(MSH2):c.2459-38T>G
NM_000251.3(MSH2):c.2527T>G (p.Cys843Gly) rs1667495338
NM_000251.3(MSH2):c.2558A>G (p.Glu853Gly) rs63750797
NM_000251.3(MSH2):c.2563C>T (p.Gln855Ter) rs1553370404
NM_000251.3(MSH2):c.2576_2584del (p.Glu859_Gln861del) rs587781278
NM_000251.3(MSH2):c.2634G>C (p.Glu878Asp) rs63751624
NM_000251.3(MSH2):c.2635-39A>G
NM_000251.3(MSH2):c.2657A>G (p.Glu886Gly) rs63750350
NM_000251.3(MSH2):c.265G>A (p.Val89Ile) rs587782586
NM_000251.3(MSH2):c.2680dup (p.Met894fs) rs876658211
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.2782T>C (p.Ser928Pro) rs587781852
NM_000251.3(MSH2):c.2801C>T (p.Thr934Met) rs587779969
NM_000251.3(MSH2):c.295A>G (p.Arg99Gly)
NM_000251.3(MSH2):c.323G>T (p.Gly108Val) rs1183145967
NM_000251.3(MSH2):c.367-40C>T
NM_000251.3(MSH2):c.367-41T>C
NM_000251.3(MSH2):c.367-4T>G rs876660764
NM_000251.3(MSH2):c.385_388del (p.Gln130fs)
NM_000251.3(MSH2):c.403C>G (p.Leu135Val) rs193096019
NM_000251.3(MSH2):c.458C>G (p.Ser153Cys) rs766349734
NM_000251.3(MSH2):c.479A>G (p.Gln160Arg) rs1573440972
NM_000251.3(MSH2):c.492del (p.Tyr165fs)
NM_000251.3(MSH2):c.646-1G>T rs1114167888
NM_000251.3(MSH2):c.646-42T>C
NM_000251.3(MSH2):c.690T>C (p.Ala230=) rs1553351595
NM_000251.3(MSH2):c.701C>G (p.Thr234Arg) rs730881773
NM_000251.3(MSH2):c.752A>G (p.Glu251Gly) rs2104107934
NM_000251.3(MSH2):c.792+36A>G rs2104113194
NM_000251.3(MSH2):c.793-23G>A rs17224255
NM_000251.3(MSH2):c.793-43C>G
NM_000251.3(MSH2):c.793G>T (p.Val265Phe) rs1553352377
NM_000251.3(MSH2):c.860G>A (p.Gly287Glu) rs587782567
NM_000251.3(MSH2):c.942+12_942+29del
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+28_942+30del
NM_000251.3(MSH2):c.942+29del rs11309117
NM_000251.3(MSH2):c.942+29dup rs11309117
NM_000251.3(MSH2):c.942+30G>T
NM_000251.3(MSH2):c.942+32G>T
NM_000251.3(MSH2):c.942+46A>G
NM_000251.3(MSH2):c.943-25_943-22del
NM_000251.3(MSH2):c.943-30A>G
NM_000251.3(MSH2):c.998G>A (p.Cys333Tyr) rs63750828

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