ClinVar Miner

List of variants in gene MSH2 reported by Mayo Clinic Laboratories, Mayo Clinic

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Gene type:
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Total variants: 113
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HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.211+9C>G rs2303426 0.55454
NM_000251.3(MSH2):c.1511-91G>T rs3732182 0.41551
NM_000251.3(MSH2):c.1661+12G>A rs3732183 0.40290
NM_000251.3(MSH2):c.1511-9A>T rs12998837 0.09123
NM_000251.3(MSH2):c.2006-6T>C rs2303428 0.08349
NM_000251.3(MSH2):c.1661+90T>C rs10183143 0.03147
NM_000251.3(MSH2):c.1760-62G>A rs17218439 0.02701
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.1386+104C>T rs17224444 0.01603
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.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.1661+73A>G rs180805863 0.00142
NM_000251.3(MSH2):c.1737A>G (p.Lys579=) rs61756467 0.00138
NM_000251.3(MSH2):c.942+3A>T rs193922376 0.00072
NM_000251.3(MSH2):c.1886A>G (p.Gln629Arg) rs61756468 0.00042
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.1275A>G (p.Glu425=) rs63751650 0.00016
NM_000251.3(MSH2):c.2537A>G (p.Gln846Arg) rs140754514 0.00015
NM_000251.3(MSH2):c.2308A>G (p.Ile770Val) rs63750684 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.2802G>A (p.Thr934=) rs150259097 0.00009
NM_000251.3(MSH2):c.317G>A (p.Arg106Lys) rs41295286 0.00009
NM_000251.3(MSH2):c.4G>A (p.Ala2Thr) rs63750466 0.00008
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.2205C>T (p.Ile735=) rs533553381 0.00003
NM_000251.3(MSH2):c.2458+8C>G rs189025757 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.2362A>C (p.Thr788Pro) rs774440277 0.00002
NM_000251.3(MSH2):c.2006-4G>A rs369853630 0.00001
NM_000251.3(MSH2):c.2047G>A (p.Gly683Arg) rs267607995 0.00001
NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter) rs63750636 0.00001
NM_000251.3(MSH2):c.2296A>G (p.Ile766Val) rs374399939 0.00001
NM_000251.3(MSH2):c.362A>G (p.Tyr121Cys) rs587779971 0.00001
NM_000251.3(MSH2):c.804A>G (p.Ser268=) rs876658954 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.95C>G (p.Thr32Ser) rs552361923 0.00001
NM_000251.2(MSH2):c.1277-?_1386+?dup
NM_000251.2(MSH2):c.793-?_1276+?dup
NM_000251.3(MSH2):c.(1276+1_1277-1)_(2634+1_2635-1)del
NM_000251.3(MSH2):c.1035G>A (p.Trp345Ter) rs63750396
NM_000251.3(MSH2):c.1083_1100delinsATCTTCTAC (p.Asn361_Val367delinsLysSerSerThr) rs1553356523
NM_000251.3(MSH2):c.1090del (p.Glu364fs) rs863225385
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter) rs63749849
NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter) rs587779075
NM_000251.3(MSH2):c.1177A>T (p.Lys393Ter) rs863225386
NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter) rs63751108
NM_000251.3(MSH2):c.1226_1227del (p.Gln409fs) rs63750086
NM_000251.3(MSH2):c.1237C>T (p.Gln413Ter) rs863225387
NM_000251.3(MSH2):c.1251_1268delinsAGTT (p.Ile418fs) rs863225388
NM_000251.3(MSH2):c.1255C>T (p.Gln419Ter) rs63750006
NM_000251.3(MSH2):c.1276+2T>C rs267607953
NM_000251.3(MSH2):c.1302del (p.Val435fs) rs863225389
NM_000251.3(MSH2):c.1351C>T (p.Gln451Ter) rs786201066
NM_000251.3(MSH2):c.1394dup (p.Asn465fs) rs863225390
NM_000251.3(MSH2):c.142G>T (p.Glu48Ter) rs63750615
NM_000251.3(MSH2):c.1481C>G (p.Ser494Ter) rs370970617
NM_000251.3(MSH2):c.1511-2A>G rs267607962
NM_000251.3(MSH2):c.1538_1539del (p.Leu513fs) rs863225391
NM_000251.3(MSH2):c.1738G>T (p.Glu580Ter) rs63751411
NM_000251.3(MSH2):c.1759+1G>A rs587779108
NM_000251.3(MSH2):c.1786_1788del (p.Asn596del) rs63749831
NM_000251.3(MSH2):c.181C>T (p.Gln61Ter) rs63750951
NM_000251.3(MSH2):c.1835C>G (p.Ser612Ter) rs63750493
NM_000251.3(MSH2):c.187del (p.Gly62_Val63insTer) rs63750160
NM_000251.3(MSH2):c.1911del (p.Arg638fs) rs63750893
NM_000251.3(MSH2):c.1915C>T (p.His639Tyr) rs28929484
NM_000251.3(MSH2):c.1982_1985del (p.Lys661fs) rs587779120
NM_000251.3(MSH2):c.2004T>A (p.Thr668=) rs1553368731
NM_000251.3(MSH2):c.2005+2dup rs541623924
NM_000251.3(MSH2):c.2005+3_2005+14del rs587779125
NM_000251.3(MSH2):c.2006G>T (p.Gly669Val) rs63751640
NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter) rs63749932
NM_000251.3(MSH2):c.20del (p.Glu7fs) rs267607915
NM_000251.3(MSH2):c.212-1G>A rs267607914
NM_000251.3(MSH2):c.212-4dup rs746333570
NM_000251.3(MSH2):c.2236dup (p.Ile746fs) rs863225392
NM_000251.3(MSH2):c.226C>T (p.Gln76Ter) rs63750042
NM_000251.3(MSH2):c.2295_2296insTA (p.Ile766Ter) rs863225393
NM_000251.3(MSH2):c.2297del (p.Ile766fs) rs863225394
NM_000251.3(MSH2):c.2300C>G (p.Ser767Ter) rs863225395
NM_000251.3(MSH2):c.235G>A (p.Val79Met) rs1573436327
NM_000251.3(MSH2):c.2388del (p.Val797fs) rs63749983
NM_000251.3(MSH2):c.2494G>T (p.Glu832Ter) rs863225396
NM_000251.3(MSH2):c.2502_2508del (p.Asn835fs) rs63751447
NM_000251.3(MSH2):c.2576_2584del (p.Glu859_Gln861del) rs587781278
NM_000251.3(MSH2):c.2633_2634del (p.Glu878fs) rs63751618
NM_000251.3(MSH2):c.2653C>T (p.Gln885Ter) rs63750808
NM_000251.3(MSH2):c.34dup (p.Glu12fs) rs63750614
NM_000251.3(MSH2):c.387_388del (p.Gln130fs) rs63750924
NM_000251.3(MSH2):c.47A>C (p.Glu16Ala) rs745771647
NM_000251.3(MSH2):c.528_529del (p.Cys176_Glu177delinsTer) rs587779164
NM_000251.3(MSH2):c.687del (p.Ala230fs) rs63749897
NM_000251.3(MSH2):c.793-1G>A rs863225397
NM_000251.3(MSH2):c.793-23G>A rs17224255
NM_000251.3(MSH2):c.839del (p.Leu280fs) rs63750091
NM_000251.3(MSH2):c.851C>A (p.Ser284Tyr) rs776501892
NM_000251.3(MSH2):c.870_874del (p.Glu290fs) rs1114167848
NM_000251.3(MSH2):c.871del (p.Glu290_Leu291insTer) rs1064794809
NM_000251.3(MSH2):c.970C>T (p.Gln324Ter) rs63750502

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