ClinVar Miner

List of variants in gene MSH2 reported as likely pathogenic for Hereditary cancer-predisposing syndrome

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Gene type:
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Total variants: 229
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HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.942+2T>A rs587779195 0.00101
NM_000251.3(MSH2):c.942G>T (p.Gln314His) rs587779197 0.00006
NM_000251.3(MSH2):c.1862G>T (p.Arg621Leu) rs759263820 0.00003
NM_000251.3(MSH2):c.2458+2T>C rs1278858560 0.00001
NM_000251.3(MSH2):c.446G>A (p.Gly149Asp) rs587779162 0.00001
NM_000251.1:c.(366+1_367-1)_(1076+1_1077-1)dup
NM_000251.1:c.1442_1443insALU
NM_000251.1:c.212-15_212-14insALU
NM_000251.1:c.489_490insALU
NM_000251.3(MSH2):c.-82G>C rs866991159
NM_000251.3(MSH2):c.1003A>C (p.Thr335Pro) rs1573456437
NM_000251.3(MSH2):c.1013_1014delinsAT (p.Gly338Asp) rs2465817993
NM_000251.3(MSH2):c.1033_1034insTAT (p.Gln344_Trp345insLeu) rs587782374
NM_000251.3(MSH2):c.1038_1049del (p.Lys347_Leu350del) rs1673079599
NM_000251.3(MSH2):c.1044_1045delinsCT (p.Gln348_Pro349delinsHisSer) rs2465819488
NM_000251.3(MSH2):c.1046C>A (p.Pro349His) rs587779067
NM_000251.3(MSH2):c.1067T>A (p.Ile356Lys) rs753075410
NM_000251.3(MSH2):c.1075A>G (p.Arg359Gly) rs587779070
NM_000251.3(MSH2):c.1076+1G>C rs267607940
NM_000251.3(MSH2):c.1076+2T>C rs2104254486
NM_000251.3(MSH2):c.1076G>T (p.Arg359Ile) rs63751604
NM_000251.3(MSH2):c.1077-1G>C rs267607944
NM_000251.3(MSH2):c.108_159del (p.Phe37fs) rs2465583767
NM_000251.3(MSH2):c.10C>T (p.Gln4Ter) rs878853797
NM_000251.3(MSH2):c.1103_1138del (p.Glu368_Leu380delinsVal) rs2465987043
NM_000251.3(MSH2):c.1227_1238del (p.Gly410_Gln413del) rs1573485191
NM_000251.3(MSH2):c.1241T>C (p.Leu414Pro) rs587779078
NM_000251.3(MSH2):c.1270_1276+7del rs2466000323
NM_000251.3(MSH2):c.1276+1G>A rs267607950
NM_000251.3(MSH2):c.1276G>A (p.Gly426Arg) rs879254234
NM_000251.3(MSH2):c.1276G>C (p.Gly426Arg) rs879254234
NM_000251.3(MSH2):c.1277-14C>G rs267607951
NM_000251.3(MSH2):c.1277-1G>C rs267607948
NM_000251.3(MSH2):c.1313CTC[1] (p.Pro439del) rs587779082
NM_000251.3(MSH2):c.1319T>C (p.Leu440Pro) rs587779084
NM_000251.3(MSH2):c.1319T>G (p.Leu440Arg) rs587779084
NM_000251.3(MSH2):c.1355A>T (p.Glu452Val) rs1553361274
NM_000251.3(MSH2):c.1361T>A (p.Ile454Lys) rs1060502025
NM_000251.3(MSH2):c.1380_1386+11del rs2528404439
NM_000251.3(MSH2):c.1386+1G>C rs267607957
NM_000251.3(MSH2):c.1386+2T>C rs1675076969
NM_000251.3(MSH2):c.1386+2T>G rs1675076969
NM_000251.3(MSH2):c.1387-2012C>T rs2528640993
NM_000251.3(MSH2):c.1427_1510+38delinsATTTGATCCTAATC rs2528688225
NM_000251.3(MSH2):c.1433T>G (p.Leu478Arg) rs2104087118
NM_000251.3(MSH2):c.1498G>C (p.Ala500Pro) rs1666733944
NM_000251.3(MSH2):c.1510+1G>A rs1114167852
NM_000251.3(MSH2):c.1510+2_1510+50del rs1558508399
NM_000251.3(MSH2):c.1511-1G>T rs267607964
NM_000251.3(MSH2):c.1511-2A>C rs267607962
NM_000251.3(MSH2):c.1568T>C (p.Phe523Ser) rs587782587
NM_000251.3(MSH2):c.1571G>C (p.Arg524Pro) rs63751207
NM_000251.3(MSH2):c.161_162insGCAGAACGTGGTCGTGG (p.Arg55fs) rs2103878331
NM_000251.3(MSH2):c.164_165insC (p.Glu56fs) rs2103878687
NM_000251.3(MSH2):c.1659_1661+8del rs2528758264
NM_000251.3(MSH2):c.1660A>C (p.Ser554Arg) rs63751656
NM_000251.3(MSH2):c.1660A>G (p.Ser554Gly) rs63751656
NM_000251.3(MSH2):c.1660_1661+3del rs2528758651
NM_000251.3(MSH2):c.1661+2T>C rs1553366680
NM_000251.3(MSH2):c.1661+2T>G rs1553366680
NM_000251.3(MSH2):c.1661+5G>C rs267607972
NM_000251.3(MSH2):c.1661+5G>T rs267607972
NM_000251.3(MSH2):c.1661G>T (p.Ser554Ile) rs63750597
NM_000251.3(MSH2):c.1662-1G>T rs267607970
NM_000251.3(MSH2):c.1662-2A>G rs267607971
NM_000251.3(MSH2):c.1667T>C (p.Leu556Ser) rs587779101
NM_000251.3(MSH2):c.170_171insCTACCTCGGCTCGATCCTCGCCGATCCGCGCCCA (p.Phe58fs) rs2103879195
NM_000251.3(MSH2):c.1721A>C (p.Gln574Pro) rs1667078647
NM_000251.3(MSH2):c.1759+1G>A rs587779108
NM_000251.3(MSH2):c.1759+1G>T rs587779108
NM_000251.3(MSH2):c.1759+2T>C rs267607976
NM_000251.3(MSH2):c.1759+3A>G rs863224630
NM_000251.3(MSH2):c.1759G>A (p.Gly587Ser) rs63751140
NM_000251.3(MSH2):c.1760-1G>A rs587779110
NM_000251.3(MSH2):c.1760-2A>G rs1573566175
NM_000251.3(MSH2):c.1799C>A (p.Ala600Asp) rs63751236
NM_000251.3(MSH2):c.1799C>T (p.Ala600Val) rs63751236
NM_000251.3(MSH2):c.1805T>C (p.Leu602Pro) rs1553368561
NM_000251.3(MSH2):c.1807G>A (p.Asp603Asn) rs63750657
NM_000251.3(MSH2):c.1807G>T (p.Asp603Tyr) rs63750657
NM_000251.3(MSH2):c.1808A>C (p.Asp603Ala) rs267607985
NM_000251.3(MSH2):c.1808A>G (p.Asp603Gly) rs267607985
NM_000251.3(MSH2):c.1808A>T (p.Asp603Val) rs267607985
NM_000251.3(MSH2):c.1812TGT[1] (p.Val606del) rs267607978
NM_000251.3(MSH2):c.1829A>C (p.His610Pro) rs1667236175
NM_000251.3(MSH2):c.182_211+1delinsC rs2465589106
NM_000251.3(MSH2):c.1862G>C (p.Arg621Pro) rs759263820
NM_000251.3(MSH2):c.1864C>A (p.Pro622Thr) rs63750280
NM_000251.3(MSH2):c.1865C>A (p.Pro622Gln) rs28929483
NM_000251.3(MSH2):c.1865C>G (p.Pro622Arg) rs28929483
NM_000251.3(MSH2):c.1871T>G (p.Ile624Ser) rs1114167870
NM_000251.3(MSH2):c.1890A>T (p.Gly630=) rs778523544
NM_000251.3(MSH2):c.1937A>G (p.Asp646Gly) rs41295290
NM_000251.3(MSH2):c.1998_2005+11del rs2528915290
NM_000251.3(MSH2):c.19G>T (p.Glu7Ter) rs375561490
NM_000251.3(MSH2):c.2005+1G>T rs267607986
NM_000251.3(MSH2):c.2005+2dup rs541623924
NM_000251.3(MSH2):c.2005+3_2005+14del rs587779125
NM_000251.3(MSH2):c.2005G>T (p.Gly669Cys) rs63751668
NM_000251.3(MSH2):c.2006-1G>T rs267607988
NM_000251.3(MSH2):c.2006-1_2012del rs2528938541
NM_000251.3(MSH2):c.2006-3T>G rs1553368975
NM_000251.3(MSH2):c.2006-7_2022del rs2104367794
NM_000251.3(MSH2):c.2006G>A (p.Gly669Asp) rs63751640
NM_000251.3(MSH2):c.2006_2007delinsTT (p.Gly669Val) rs2528938694
NM_000251.3(MSH2):c.2011A>T (p.Asn671Tyr) rs63751232
NM_000251.3(MSH2):c.2012A>T (p.Asn671Ile) rs1558519505
NM_000251.3(MSH2):c.2013T>A (p.Asn671Lys) rs587779127
NM_000251.3(MSH2):c.2019_2021del (p.Gly674del) rs2528939519
NM_000251.3(MSH2):c.2020G>A (p.Gly674Ser) rs63750234
NM_000251.3(MSH2):c.2021G>T (p.Gly674Val) rs267607996
NM_000251.3(MSH2):c.2023A>G (p.Lys675Glu) rs1060501990
NM_000251.3(MSH2):c.2026T>C (p.Ser676Pro) rs63751089
NM_000251.3(MSH2):c.203_211+9delinsTGCCCGCG rs2465590916
NM_000251.3(MSH2):c.2042A>C (p.Gln681Pro) rs1667302018
NM_000251.3(MSH2):c.2060T>C (p.Leu687Pro) rs587779133
NM_000251.3(MSH2):c.2060T>G (p.Leu687Arg) rs587779133
NM_000251.3(MSH2):c.2065G>C (p.Ala689Pro) rs914610419
NM_000251.3(MSH2):c.2074G>A (p.Gly692Arg) rs63750232
NM_000251.3(MSH2):c.2074G>C (p.Gly692Arg) rs63750232
NM_000251.3(MSH2):c.2075G>A (p.Gly692Glu) rs63751432
NM_000251.3(MSH2):c.2078G>A (p.Cys693Tyr) rs1057524909
NM_000251.3(MSH2):c.2078_2080del (p.Cys693del) rs2528943887
NM_000251.3(MSH2):c.2079T>G (p.Cys693Trp) rs1553369089
NM_000251.3(MSH2):c.207_211+42del rs1553348901
NM_000251.3(MSH2):c.2080T>A (p.Phe694Ile) rs63751409
NM_000251.3(MSH2):c.2083G>A (p.Val695Met) rs772491283
NM_000251.3(MSH2):c.2087C>A (p.Pro696Gln) rs267607994
NM_000251.3(MSH2):c.2090G>A (p.Cys697Tyr) rs63750398
NM_000251.3(MSH2):c.2091T>G (p.Cys697Trp) rs63750872
NM_000251.3(MSH2):c.2105T>A (p.Val702Glu) rs587779137
NM_000251.3(MSH2):c.211+1G>A rs1114167883
NM_000251.3(MSH2):c.211G>C (p.Gly71Arg) rs587782659
NM_000251.3(MSH2):c.212-2A>G rs267607917
NM_000251.3(MSH2):c.2123T>A (p.Ile708Asn) rs63750108
NM_000251.3(MSH2):c.2132G>C (p.Arg711Pro) rs138465383
NM_000251.3(MSH2):c.2167_2169del (p.Ser723del) rs2528949304
NM_000251.3(MSH2):c.2168C>T (p.Ser723Phe) rs63750794
NM_000251.3(MSH2):c.2210+1G>C rs267608002
NM_000251.3(MSH2):c.2210+1G>T rs267608002
NM_000251.3(MSH2):c.2210+2T>A rs2104379659
NM_000251.3(MSH2):c.2210_2210+1delinsTA rs1114167890
NM_000251.3(MSH2):c.2211-10T>A rs267608006
NM_000251.3(MSH2):c.2211-1G>A rs267607979
NM_000251.3(MSH2):c.2211-1G>C rs267607979
NM_000251.3(MSH2):c.2211-3_2211-2delinsG rs2528977079
NM_000251.3(MSH2):c.2232AAT[1] (p.Ile747del) rs267607690
NM_000251.3(MSH2):c.2242G>C (p.Asp748His) rs267608007
NM_000251.3(MSH2):c.2242G>T (p.Asp748Tyr) rs267608007
NM_000251.3(MSH2):c.2251G>C (p.Gly751Arg) rs63751119
NM_000251.3(MSH2):c.2281G>A (p.Gly761Arg) rs1060502038
NM_000251.3(MSH2):c.2282G>A (p.Gly761Glu) rs876659937
NM_000251.3(MSH2):c.2360T>G (p.Leu787Arg) rs1558521929
NM_000251.3(MSH2):c.2399T>C (p.Leu800Pro) rs2104407685
NM_000251.3(MSH2):c.2402A>C (p.His801Pro) rs1114167875
NM_000251.3(MSH2):c.2458+1G>C rs267608010
NM_000251.3(MSH2):c.2458+976A>G rs2104420229
NM_000251.3(MSH2):c.2458+985A>G rs2529009203
NM_000251.3(MSH2):c.2459-11A>G rs1553370287
NM_000251.3(MSH2):c.2459-12A>G rs267608012
NM_000251.3(MSH2):c.2459-1G>C rs1060501991
NM_000251.3(MSH2):c.2459-2A>T rs267608011
NM_000251.3(MSH2):c.2459-5_2460del rs2529029548
NM_000251.3(MSH2):c.2459-954A>G rs2104421991
NM_000251.3(MSH2):c.2520_2524delinsGCTAAAC (p.Ile841fs) rs2529034041
NM_000251.3(MSH2):c.2525_2526dup (p.Cys843fs) rs587779148
NM_000251.3(MSH2):c.2634+5G>A rs267608017
NM_000251.3(MSH2):c.2634G>C (p.Glu878Asp) rs63751624
NM_000251.3(MSH2):c.2635-12C>G rs1436357692
NM_000251.3(MSH2):c.2635-1G>T rs267608020
NM_000251.3(MSH2):c.2635-24A>G rs1667575488
NM_000251.3(MSH2):c.2635-2A>C rs1114167818
NM_000251.3(MSH2):c.2635-2A>T rs1114167818
NM_000251.3(MSH2):c.2635-3C>G rs587779153
NM_000251.3(MSH2):c.2641G>T (p.Glu881Ter) rs876660450
NM_000251.3(MSH2):c.2656G>T (p.Glu886Ter) rs1230083633
NM_000251.3(MSH2):c.2680dup (p.Met894fs) rs876658211
NM_000251.3(MSH2):c.2740del (p.Glu914fs) rs1573582750
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+1G>T rs267607924
NM_000251.3(MSH2):c.366+1_366+2insAAGAATGATTGGTATTTGGCATATAAGG rs2465669496
NM_000251.3(MSH2):c.366+1dup rs2465671168
NM_000251.3(MSH2):c.366+2T>C rs1558457533
NM_000251.3(MSH2):c.366+2T>G rs1558457533
NM_000251.3(MSH2):c.366+2_366+5delinsCA rs2465671277
NM_000251.3(MSH2):c.366G>C (p.Lys122Asn) rs2103985797
NM_000251.3(MSH2):c.367-1G>A rs267607925
NM_000251.3(MSH2):c.367-2A>G rs2104016532
NM_000251.3(MSH2):c.445G>C (p.Gly149Arg) rs929758799
NM_000251.3(MSH2):c.488T>A (p.Val163Asp) rs63750214
NM_000251.3(MSH2):c.488T>G (p.Val163Gly) rs63750214
NM_000251.3(MSH2):c.493T>G (p.Tyr165Asp) rs587779163
NM_000251.3(MSH2):c.518T>C (p.Leu173Pro) rs63750070
NM_000251.3(MSH2):c.524T>C (p.Leu175Pro) rs63751291
NM_000251.3(MSH2):c.560T>A (p.Leu187His) rs63751444
NM_000251.3(MSH2):c.569T>C (p.Leu190Pro) rs1114167878
NM_000251.3(MSH2):c.572T>G (p.Leu191Arg) rs2104034341
NM_000251.3(MSH2):c.592G>A (p.Glu198Lys) rs587779166
NM_000251.3(MSH2):c.593A>C (p.Glu198Ala) rs63750327
NM_000251.3(MSH2):c.596G>A (p.Cys199Tyr) rs63751136
NM_000251.3(MSH2):c.597T>G (p.Cys199Trp) rs1573441776
NM_000251.3(MSH2):c.599T>A (p.Val200Asp) rs587779167
NM_000251.3(MSH2):c.645+2T>C rs876658996
NM_000251.3(MSH2):c.645+2dup rs2465717090
NM_000251.3(MSH2):c.646-19_661del rs2465746449
NM_000251.3(MSH2):c.646-2A>C rs587779169
NM_000251.3(MSH2):c.646-2A>T rs587779169
NM_000251.3(MSH2):c.646-3T>G rs267607930
NM_000251.3(MSH2):c.646-3_654del rs267607929
NM_000251.3(MSH2):c.646-6_727del rs2465746847
NM_000251.3(MSH2):c.70C>T (p.Gln24Ter) rs587779976
NM_000251.3(MSH2):c.792+1G>C rs267607934
NM_000251.3(MSH2):c.792+2T>A rs587782408
NM_000251.3(MSH2):c.792+2T>C rs587782408
NM_000251.3(MSH2):c.793-1G>A rs863225397
NM_000251.3(MSH2):c.793-1G>C rs863225397
NM_000251.3(MSH2):c.793-1G>T rs863225397
NM_000251.3(MSH2):c.793-2A>G rs267607933
NM_000251.3(MSH2):c.806C>T (p.Ser269Leu) rs63750058
NM_000251.3(MSH2):c.942+1G>T rs587779193
NM_000251.3(MSH2):c.942+3A>C rs193922376
NM_000251.3(MSH2):c.942+3A>G rs193922376
NM_000251.3(MSH2):c.942+3_942+4delinsGT rs2465786910
NM_000251.3(MSH2):c.942_942+24del
NM_000251.3(MSH2):c.943-10_943-2del rs2465814223
NM_000251.3(MSH2):c.943-15T>G rs2104241530
NM_000251.3(MSH2):c.943-2A>G rs587779198
NM_000251.3(MSH2):c.998G>T (p.Cys333Phe) rs63750828

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