ClinVar Miner

List of variants in gene MSH2 reported by University of Washington Department of Laboratory Medicine, University of Washington

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Gene type:
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Total variants: 94
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HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.1386+4512G>T rs75352573 0.01279
NM_000251.3(MSH2):c.1759+1281G>A rs77300212 0.00719
NM_000251.3(MSH2):c.1276+6958A>T rs150952868 0.00573
NM_000251.3(MSH2):c.1386+6500A>G rs76713374 0.00329
NM_000251.3(MSH2):c.2635-320A>G rs77681063 0.00325
NM_000251.3(MSH2):c.1277-2433T>A rs186552003 0.00310
NM_000251.3(MSH2):c.1387-6173G>T rs142227676 0.00255
NM_000251.3(MSH2):c.2635-325C>T rs116279697 0.00198
NM_000251.3(MSH2):c.1076+4134C>G rs187772681 0.00196
NM_000251.3(MSH2):c.1077-775C>T rs17217933 0.00158
NM_000251.3(MSH2):c.2459-312A>G rs796612837 0.00125
NM_000251.3(MSH2):c.1386+917T>A rs187069025 0.00108
NM_000251.3(MSH2):c.138C>G (p.His46Gln) rs33946261 0.00019
NM_000251.3(MSH2):c.1461C>G (p.Asp487Glu) rs35107951 0.00011
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.1600C>T (p.Arg534Cys) rs63750029 0.00004
NM_000251.3(MSH2):c.2516A>G (p.His839Arg) rs63750027 0.00004
NM_000251.3(MSH2):c.1077-766A>G rs869312596 0.00003
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.1963G>A (p.Val655Ile) rs549467183 0.00003
NM_000251.3(MSH2):c.2459-1055A>G rs553886398 0.00002
NM_000251.3(MSH2):c.1347G>C (p.Lys449Asn) rs587781331 0.00001
NM_000251.3(MSH2):c.1386+149A>T rs869312599 0.00001
NM_000251.3(MSH2):c.1387-2159A>G rs869312597 0.00001
NM_000251.3(MSH2):c.1796T>C (p.Leu599Ser) rs747504492 0.00001
NM_000251.3(MSH2):c.1862G>A (p.Arg621Gln) rs759263820 0.00001
NM_000251.3(MSH2):c.2132G>A (p.Arg711Gln) rs138465383 0.00001
NM_000251.3(MSH2):c.2458+2T>C rs1278858560 0.00001
NM_000251.3(MSH2):c.763A>G (p.Ser255Gly) rs761529282 0.00001
NM_000251.2(MSH2):c.(?_-68)_1076+?del
NM_000251.2(MSH2):c.-82G>C rs866991159
NM_000251.2(MSH2):c.793-?_1276+?dup
NM_000251.3(MSH2):c.(1276+1_1277-1)_(1661+1_1662-1)del
NM_000251.3(MSH2):c.-12G>A rs1558450937
NM_000251.3(MSH2):c.1033T>G (p.Trp345Gly) rs1558466616
NM_000251.3(MSH2):c.1071G>A (p.Glu357=) rs587781617
NM_000251.3(MSH2):c.1076+1G>T rs267607940
NM_000251.3(MSH2):c.1077-1G>T rs267607944
NM_000251.3(MSH2):c.1191A>T (p.Gln397His) rs768694189
NM_000251.3(MSH2):c.1201_1202dup (p.Leu401fs) rs869312768
NM_000251.3(MSH2):c.1226_1227del (p.Gln409fs) rs63750086
NM_000251.3(MSH2):c.1277-1G>A rs267607948
NM_000251.3(MSH2):c.1277-2A>T rs267607949
NM_000251.3(MSH2):c.12G>T (p.Gln4His) rs878853800
NM_000251.3(MSH2):c.1357A>C (p.Met453Leu) rs1558493602
NM_000251.3(MSH2):c.1386+7642A>G rs869312598
NM_000251.3(MSH2):c.1387-6187G>A rs17224514
NM_000251.3(MSH2):c.1511-1G>A rs267607964
NM_000251.3(MSH2):c.1571G>C (p.Arg524Pro) rs63751207
NM_000251.3(MSH2):c.1659C>T (p.Asn553=) rs869312796
NM_000251.3(MSH2):c.1661+1G>T rs267607969
NM_000251.3(MSH2):c.1759+1G>T rs587779108
NM_000251.3(MSH2):c.1760-1G>A rs587779110
NM_000251.3(MSH2):c.1784T>G (p.Leu595Arg) rs786201590
NM_000251.3(MSH2):c.1807G>C (p.Asp603His) rs63750657
NM_000251.3(MSH2):c.1832T>A (p.Val611Glu) rs1553368590
NM_000251.3(MSH2):c.1850T>C (p.Val617Ala) rs1260310695
NM_000251.3(MSH2):c.2005+479T>G rs869312595
NM_000251.3(MSH2):c.2006-1G>T rs267607988
NM_000251.3(MSH2):c.2006G>A (p.Gly669Asp) rs63751640
NM_000251.3(MSH2):c.2017G>A (p.Gly673Arg) rs1558519543
NM_000251.3(MSH2):c.2074G>T (p.Gly692Trp) rs63750232
NM_000251.3(MSH2):c.2075G>A (p.Gly692Glu) rs63751432
NM_000251.3(MSH2):c.2077T>C (p.Cys693Arg) rs1558519728
NM_000251.3(MSH2):c.2086C>G (p.Pro696Ala) rs546201898
NM_000251.3(MSH2):c.2095T>C (p.Ser699Pro) rs1428704795
NM_000251.3(MSH2):c.2211-1G>T rs267607979
NM_000251.3(MSH2):c.2285T>C (p.Leu762Ser) rs1558521698
NM_000251.3(MSH2):c.2294C>T (p.Ala765Val) rs1261458082
NM_000251.3(MSH2):c.2317A>G (p.Lys773Glu) rs1558521813
NM_000251.3(MSH2):c.2355T>C (p.His785=) rs1114167840
NM_000251.3(MSH2):c.2360T>G (p.Leu787Arg) rs1558521929
NM_000251.3(MSH2):c.2458+976A>G rs2104420229
NM_000251.3(MSH2):c.2459-12A>G rs267608012
NM_000251.3(MSH2):c.2459-1G>A rs1060501991
NM_000251.3(MSH2):c.2479G>C (p.Gly827Arg) rs63750478
NM_000251.3(MSH2):c.2576_2584del (p.Glu859_Gln861del) rs587781278
NM_000251.3(MSH2):c.2634+1G>T rs267608019
NM_000251.3(MSH2):c.2634+2T>C rs876660546
NM_000251.3(MSH2):c.271G>C (p.Asp91His) rs1558457163
NM_000251.3(MSH2):c.2754G>T (p.Lys918Asn) rs1553370893
NM_000251.3(MSH2):c.301_306del (p.Glu101_Val102del) rs587779157
NM_000251.3(MSH2):c.366+1G>A rs267607924
NM_000251.3(MSH2):c.366+2T>C rs1558457533
NM_000251.3(MSH2):c.432C>T (p.Ser144=) rs1558459072
NM_000251.3(MSH2):c.480G>T (p.Gln160His) rs1558459273
NM_000251.3(MSH2):c.518T>C (p.Leu173Pro) rs63750070
NM_000251.3(MSH2):c.53G>A (p.Gly18Asp) rs1200418561
NM_000251.3(MSH2):c.793-2A>C rs267607933
NM_000251.3(MSH2):c.896A>G (p.Tyr299Cys) rs1558464315
NM_000251.3(MSH2):c.925G>C (p.Ala309Pro) rs781257094
NM_000251.3(MSH2):c.929T>G (p.Leu310Arg) rs63750640

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