ClinVar Miner

List of variants in gene MSH2 reported as likely pathogenic for not provided

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Gene type:
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Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.1862G>T (p.Arg621Leu) rs759263820 0.00003
NM_000251.2(MSH2):c.-82G>C rs866991159
NM_000251.2(MSH2):c.793-?_1276+?dup
NM_000251.2:c.1760_2458del
NM_000251.3(MSH2):c.1003del (p.Thr335fs) rs1673074932
NM_000251.3(MSH2):c.1012G>C (p.Gly338Arg) rs63751004
NM_000251.3(MSH2):c.1013G>T (p.Gly338Val) rs587779065
NM_000251.3(MSH2):c.1045C>A (p.Pro349Thr) rs267607939
NM_000251.3(MSH2):c.1045C>T (p.Pro349Ser) rs267607939
NM_000251.3(MSH2):c.1046C>T (p.Pro349Leu) rs587779067
NM_000251.3(MSH2):c.1076+1dup rs1673083690
NM_000251.3(MSH2):c.1077-2A>G rs267607943
NM_000251.3(MSH2):c.1090del (p.Glu364fs) rs863225385
NM_000251.3(MSH2):c.1177A>T (p.Lys393Ter) rs863225386
NM_000251.3(MSH2):c.1229del (p.Gly410fs) rs1553356700
NM_000251.3(MSH2):c.1237C>T (p.Gln413Ter) rs863225387
NM_000251.3(MSH2):c.1276+2T>C rs267607953
NM_000251.3(MSH2):c.1302del (p.Val435fs) rs863225389
NM_000251.3(MSH2):c.1384dup (p.Gln462fs) rs2103760063
NM_000251.3(MSH2):c.1481C>G (p.Ser494Ter) rs370970617
NM_000251.3(MSH2):c.1538_1539del (p.Leu513fs) rs863225391
NM_000251.3(MSH2):c.1566C>A (p.Tyr522Ter) rs63750224
NM_000251.3(MSH2):c.1571G>C (p.Arg524Pro) rs63751207
NM_000251.3(MSH2):c.1593del (p.Val532fs) rs1558511051
NM_000251.3(MSH2):c.1649_1650del (p.Lys550fs) rs1114167835
NM_000251.3(MSH2):c.1661+1G>A rs267607969
NM_000251.3(MSH2):c.1661+5G>C rs267607972
NM_000251.3(MSH2):c.1661+5G>T rs267607972
NM_000251.3(MSH2):c.1738_1741del (p.Glu580fs) rs1057524910
NM_000251.3(MSH2):c.1759+1G>A rs587779108
NM_000251.3(MSH2):c.1760-1G>A rs587779110
NM_000251.3(MSH2):c.1760-2_1783del rs1064795329
NM_000251.3(MSH2):c.1808A>T (p.Asp603Val) rs267607985
NM_000251.3(MSH2):c.1864C>A (p.Pro622Thr) rs63750280
NM_000251.3(MSH2):c.1865C>G (p.Pro622Arg) rs28929483
NM_000251.3(MSH2):c.1911del (p.Arg638fs) rs63750893
NM_000251.3(MSH2):c.1927del (p.Glu643fs) rs1667245819
NM_000251.3(MSH2):c.195del (p.Lys65fs)
NM_000251.3(MSH2):c.1982_1985del (p.Lys661fs) rs587779120
NM_000251.3(MSH2):c.1989del (p.Met663fs) rs1558518588
NM_000251.3(MSH2):c.2004T>A (p.Thr668=) rs1553368731
NM_000251.3(MSH2):c.2005+2dup rs541623924
NM_000251.3(MSH2):c.2011A>G (p.Asn671Asp) rs63751232
NM_000251.3(MSH2):c.2013T>A (p.Asn671Lys) rs587779127
NM_000251.3(MSH2):c.2020G>C (p.Gly674Arg) rs63750234
NM_000251.3(MSH2):c.2021G>A (p.Gly674Asp) rs267607996
NM_000251.3(MSH2):c.2060T>C (p.Leu687Pro) rs587779133
NM_000251.3(MSH2):c.2062A>G (p.Met688Val) rs1573569964
NM_000251.3(MSH2):c.2075G>A (p.Gly692Glu) rs63751432
NM_000251.3(MSH2):c.20del (p.Glu7fs) rs267607915
NM_000251.3(MSH2):c.211G>C (p.Gly71Arg) rs587782659
NM_000251.3(MSH2):c.2168C>T (p.Ser723Phe) rs63750794
NM_000251.3(MSH2):c.2182_2199del (p.Glu728_Ala733del) rs1553369194
NM_000251.3(MSH2):c.2211-10T>A rs267608006
NM_000251.3(MSH2):c.2251G>C (p.Gly751Arg) rs63751119
NM_000251.3(MSH2):c.2267_2268insAGAA (p.Tyr757fs) rs1558521605
NM_000251.3(MSH2):c.2295_2296insTA (p.Ile766Ter) rs863225393
NM_000251.3(MSH2):c.2300C>G (p.Ser767Ter) rs863225395
NM_000251.3(MSH2):c.2320A>G (p.Ile774Val) rs775464903
NM_000251.3(MSH2):c.2377C>T (p.Gln793Ter) rs730881769
NM_000251.3(MSH2):c.2458+1G>A rs267608010
NM_000251.3(MSH2):c.2458+1G>C
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.2588dup (p.Tyr863Ter) rs1553370435
NM_000251.3(MSH2):c.2634G>A (p.Glu878=) rs63751624
NM_000251.3(MSH2):c.2634G>C (p.Glu878Asp) rs63751624
NM_000251.3(MSH2):c.2680dup (p.Met894fs) rs876658211
NM_000251.3(MSH2):c.301_306del (p.Glu101_Val102del) rs587779157
NM_000251.3(MSH2):c.490G>T (p.Gly164Trp) rs63750582
NM_000251.3(MSH2):c.492del (p.Tyr165fs)
NM_000251.3(MSH2):c.528_529del (p.Cys176_Glu177delinsTer) rs587779164
NM_000251.3(MSH2):c.645+2T>C rs876658996
NM_000251.3(MSH2):c.645+2T>G rs876658996
NM_000251.3(MSH2):c.646-1G>T rs1114167888
NM_000251.3(MSH2):c.646-2A>G rs587779169
NM_000251.3(MSH2):c.680dup (p.Ala230fs)
NM_000251.3(MSH2):c.792+1G>A rs267607934
NM_000251.3(MSH2):c.792+2T>G rs587782408
NM_000251.3(MSH2):c.793-1G>A rs863225397
NM_000251.3(MSH2):c.871_872dup (p.Leu291_Thr292insTer)
NM_000251.3(MSH2):c.871del (p.Glu290_Leu291insTer) rs1064794809
NM_000251.3(MSH2):c.901A>T (p.Lys301Ter) rs63749915
NM_000251.3(MSH2):c.922_925dup (p.Ala309fs)
NM_000251.3(MSH2):c.942+3A>C rs193922376
NM_000251.3(MSH2):c.942+3A>G rs193922376
NM_000251.3(MSH2):c.961_1006del (p.Thr321fs) rs1553353114
NM_000251.3(MSH2):c.998_999dup (p.Lys334fs)

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