ClinVar Miner

List of variants in gene MSH2 reported as pathogenic by Department of Pathology and Laboratory Medicine, Sinai Health System

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Gene type:
ClinVar version:
Total variants: 115
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HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.942+3A>T rs193922376 0.00072
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro) rs63750875 0.00003
NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter) rs63750636 0.00001
NC_000002.12:g.(?_47482779)_(47482949_?)del
NM_000251.2(MSH2):c.1662-?_1759+?del
NM_000251.2(MSH2):c.1760-?_2458+?del
NM_000251.2(MSH2):c.2006-?_2210+?del
NM_000251.2(MSH2):c.367-?_1076+?del
NM_000251.2(MSH2):c.367-?_1276+?del
NM_000251.2(MSH2):c.367-?_1386+?del
NM_000251.2(MSH2):c.367-?_645+?del
NM_000251.2(MSH2):c.943-?_1076+?del
NM_000251.3(MSH2):c.-1_211+1177del
NM_000251.3(MSH2):c.-1_212-2403del
NM_000251.3(MSH2):c.-2_211+156del rs2103865247
NM_000251.3(MSH2):c.-2_211+1del rs2103865151
NM_000251.3(MSH2):c.-4_211+864del
NM_000251.3(MSH2):c.1018dup (p.Arg340fs) rs63750703
NM_000251.3(MSH2):c.1077-2_1276+1del rs2104435254
NM_000251.3(MSH2):c.1077_1276del rs1553356518
NM_000251.3(MSH2):c.1163dup (p.Asn388fs) rs2104439295
NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter) rs587779075
NM_000251.3(MSH2):c.1189C>T (p.Gln397Ter) rs63750611
NM_000251.3(MSH2):c.1215C>G (p.Tyr405Ter) rs63751271
NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter) rs63751108
NM_000251.3(MSH2):c.1222dup (p.Tyr408fs) rs63751142
NM_000251.3(MSH2):c.1226_1227del (p.Gln409fs) rs63750086
NM_000251.3(MSH2):c.1276+1G>A rs267607950
NM_000251.3(MSH2):c.1277-2_1386+1del rs2103751857
NM_000251.3(MSH2):c.1278_1386+1del rs1553361141
NM_000251.3(MSH2):c.1285C>T (p.Gln429Ter) rs63751693
NM_000251.3(MSH2):c.136_164del (p.His46fs) rs63751482
NM_000251.3(MSH2):c.1373T>G (p.Leu458Ter) rs63750521
NM_000251.3(MSH2):c.1386+1G>A rs267607957
NM_000251.3(MSH2):c.1387-2del rs2104082025
NM_000251.3(MSH2):c.1387-5_1510+1293del
NM_000251.3(MSH2):c.1399G>T (p.Glu467Ter) rs587779089
NM_000251.3(MSH2):c.1418C>G (p.Ser473Ter) rs63751403
NM_000251.3(MSH2):c.142G>T (p.Glu48Ter) rs63750615
NM_000251.3(MSH2):c.1444dup (p.Arg482fs) rs63750068
NM_000251.3(MSH2):c.1457_1460del (p.Asn486fs) rs1114167806
NM_000251.3(MSH2):c.1477C>T (p.Gln493Ter) rs63750936
NM_000251.3(MSH2):c.1534_1543del (p.Lys512fs) rs1553366522
NM_000251.3(MSH2):c.1552_1553del (p.Gln518fs) rs63749930
NM_000251.3(MSH2):c.1557del (p.Phe519fs) rs1553366554
NM_000251.3(MSH2):c.1560dup (p.Tyr521fs) rs1553366561
NM_000251.3(MSH2):c.1566C>G (p.Tyr522Ter) rs63750224
NM_000251.3(MSH2):c.163del (p.Arg55fs) rs63750337
NM_000251.3(MSH2):c.1661+5G>C rs267607972
NM_000251.3(MSH2):c.1662-1_1759+1048del
NM_000251.3(MSH2):c.1662-2_1759+1del rs2104272766
NM_000251.3(MSH2):c.1760-3_2005+453del rs2104334736
NM_000251.3(MSH2):c.1760-3_2006-300del
NM_000251.3(MSH2):c.1786_1788del (p.Asn596del) rs63749831
NM_000251.3(MSH2):c.1835C>G (p.Ser612Ter) rs63750493
NM_000251.3(MSH2):c.1882G>T (p.Gly628Ter) rs371776176
NM_000251.3(MSH2):c.1901T>G (p.Leu634Ter) rs1114167811
NM_000251.3(MSH2):c.1984C>T (p.Gln662Ter) rs786204321
NM_000251.3(MSH2):c.1986_1987del (p.Gln662fs) rs587779122
NM_000251.3(MSH2):c.1_211+1068del
NM_000251.3(MSH2):c.2006-2_2210+1del rs2104368001
NM_000251.3(MSH2):c.2063T>G (p.Met688Arg) rs63749993
NM_000251.3(MSH2):c.2075G>T (p.Gly692Val) rs63751432
NM_000251.3(MSH2):c.2082del (p.Phe694fs) rs63750689
NM_000251.3(MSH2):c.2100del (p.Glu701fs) rs1553369113
NM_000251.3(MSH2):c.211+1G>T rs1114167883
NM_000251.3(MSH2):c.212-1_366+712del rs2103974925
NM_000251.3(MSH2):c.212-2_366+1del rs2103974901
NM_000251.3(MSH2):c.212-4_363del rs2103974611
NM_000251.3(MSH2):c.2135dup (p.Gly713fs) rs63751453
NM_000251.3(MSH2):c.213_366+1del rs1553350052
NM_000251.3(MSH2):c.2145del (p.Asp716fs) rs1553369164
NM_000251.3(MSH2):c.2148del (p.Asp716fs) rs1553369165
NM_000251.3(MSH2):c.2152C>T (p.Gln718Ter) rs587779139
NM_000251.3(MSH2):c.2211-2A>G rs267608001
NM_000251.3(MSH2):c.2211-2A>T rs267608001
NM_000251.3(MSH2):c.2228C>G (p.Ser743Ter) rs63751155
NM_000251.3(MSH2):c.229_230del (p.Ser77fs) rs63749848
NM_000251.3(MSH2):c.2425G>T (p.Glu809Ter) rs202145681
NM_000251.3(MSH2):c.2444del (p.Tyr815fs) rs2104409719
NM_000251.3(MSH2):c.2484dup (p.His829fs) rs1553370324
NM_000251.3(MSH2):c.2525_2526del (p.Glu842fs) rs587779148
NM_000251.3(MSH2):c.2575G>T (p.Glu859Ter) rs63749830
NM_000251.3(MSH2):c.2633_2634del (p.Glu878fs) rs63751618
NM_000251.3(MSH2):c.2635-3_2805del rs2104459054
NM_000251.3(MSH2):c.2662del (p.Leu888fs) rs63751007
NM_000251.3(MSH2):c.266del (p.Val89fs) rs2103978746
NM_000251.3(MSH2):c.367-2_645+1del rs2104016560
NM_000251.3(MSH2):c.367-2_645+432del rs2104016448
NM_000251.3(MSH2):c.367-2_645+742del
NM_000251.3(MSH2):c.367-3_645+631del rs2104016493
NM_000251.3(MSH2):c.387_388del (p.Gln130fs) rs63750924
NM_000251.3(MSH2):c.459del (p.Ala154fs) rs2104023773
NM_000251.3(MSH2):c.475dup (p.Arg159fs) rs786204319
NM_000251.3(MSH2):c.560T>C (p.Leu187Pro) rs63751444
NM_000251.3(MSH2):c.613_616dup (p.Thr206fs) rs1553350946
NM_000251.3(MSH2):c.628_629del (p.Met210fs) rs1553350966
NM_000251.3(MSH2):c.645+1G>A rs267607689
NM_000251.3(MSH2):c.645+1G>C rs267607689
NM_000251.3(MSH2):c.646-1_648del rs1553351549
NM_000251.3(MSH2):c.646-1_792+486del rs2104097954
NM_000251.3(MSH2):c.687_688insT (p.Ala230fs) rs63750364
NM_000251.3(MSH2):c.687del (p.Ala230fs) rs63749897
NM_000251.3(MSH2):c.696_697del (p.Ser233fs) rs63750426
NM_000251.3(MSH2):c.70C>T (p.Gln24Ter) rs587779976
NM_000251.3(MSH2):c.792+1G>C rs267607934
NM_000251.3(MSH2):c.793-2_943-14del
NM_000251.3(MSH2):c.811_814del (p.Ser271fs) rs587779185
NM_000251.3(MSH2):c.892C>T (p.Gln298Ter) rs63750934
NM_000251.3(MSH2):c.943-2A>G rs587779198
NM_000251.3(MSH2):c.943-2_1076+1del rs2104242036
NM_000251.3(MSH2):c.970C>T (p.Gln324Ter) rs63750502
NM_000251.3(MSH2):c.998G>A (p.Cys333Tyr) rs63750828
NM_000251.3(MSH2):c.999dup (p.Lys334Ter) rs2104247370
Single allele

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