ClinVar Miner

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

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Gene type:
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Total variants: 289
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HGVS dbSNP
NM_000251.2(MSH2):c.(1661+1_1662-1)_(*1_?)del
NM_000251.2(MSH2):c.1009C>T (p.Gln337Ter) rs63750778
NM_000251.2(MSH2):c.1023del (p.Val342fs) rs864622340
NM_000251.2(MSH2):c.1035G>A (p.Trp345Ter) rs63750396
NM_000251.2(MSH2):c.1042C>T (p.Gln348Ter) rs979212552
NM_000251.2(MSH2):c.1042del (p.Gln348fs) rs1553353233
NM_000251.2(MSH2):c.1043del (p.Gln348fs) rs1114167809
NM_000251.2(MSH2):c.1068del (p.Ile356fs) rs1114167867
NM_000251.2(MSH2):c.1071_1072dup (p.Glu358fs) rs1558466769
NM_000251.2(MSH2):c.1075_1076dup (p.Leu360Aspfs) rs1114167858
NM_000251.2(MSH2):c.1076+1G>A rs267607940
NM_000251.2(MSH2):c.1076+1G>T rs267607940
NM_000251.2(MSH2):c.1077-1G>C rs267607944
NM_000251.2(MSH2):c.1077-2A>C rs267607943
NM_000251.2(MSH2):c.1077-2A>G rs267607943
NM_000251.2(MSH2):c.1120C>T (p.Gln374Ter) rs63750558
NM_000251.2(MSH2):c.1125_1126insAT (p.Leu376fs) rs786203350
NM_000251.2(MSH2):c.1129C>T (p.Gln377Ter) rs63750267
NM_000251.2(MSH2):c.1143del (p.Arg382fs) rs1553356594
NM_000251.2(MSH2):c.1147C>T (p.Arg383Ter) rs63749849
NM_000251.2(MSH2):c.1165C>T (p.Arg389Ter) rs587779075
NM_000251.2(MSH2):c.11dup (p.Pro5fs) rs730881775
NM_000251.2(MSH2):c.1204C>T (p.Gln402Ter) rs63751412
NM_000251.2(MSH2):c.1204del (p.Gln402fs) rs63751413
NM_000251.2(MSH2):c.1208del (p.Asp403fs) rs1553356678
NM_000251.2(MSH2):c.1210del (p.Cys404fs) rs587782777
NM_000251.2(MSH2):c.1216C>T (p.Arg406Ter) rs63751108
NM_000251.2(MSH2):c.1219_1220CT[1] (p.Tyr408fs) rs587779076
NM_000251.2(MSH2):c.1222dup (p.Tyr408fs) rs63751142
NM_000251.2(MSH2):c.1224T>G (p.Tyr408Ter) rs63750132
NM_000251.2(MSH2):c.1225C>T (p.Gln409Ter) rs151244108
NM_000251.2(MSH2):c.1226_1227del (p.Gln409fs) rs63750086
NM_000251.2(MSH2):c.1237C>T (p.Gln413Ter) rs863225387
NM_000251.2(MSH2):c.1247_1257dup (p.Ala420fs) rs1553356720
NM_000251.2(MSH2):c.124_127dup (p.Tyr43fs) rs587782561
NM_000251.2(MSH2):c.1251_1268delinsAGTT (p.Ile418fs) rs863225388
NM_000251.2(MSH2):c.1252dup (p.Ile418fs) rs1114167830
NM_000251.2(MSH2):c.1276+1G>A rs267607950
NM_000251.2(MSH2):c.1276+1G>T rs267607950
NM_000251.2(MSH2):c.1276+2T>C rs267607953
NM_000251.2(MSH2):c.1277-2A>G rs267607949
NM_000251.2(MSH2):c.1285C>T (p.Gln429Ter) rs63751693
NM_000251.2(MSH2):c.1285del (p.Gln429fs) rs1114167833
NM_000251.2(MSH2):c.1321dup (p.Thr441fs) rs63750807
NM_000251.2(MSH2):c.1344del (p.Lys449fs) rs876658918
NM_000251.2(MSH2):c.1350del (p.Gln451fs) rs1553361261
NM_000251.2(MSH2):c.1351C>T (p.Gln451Ter) rs786201066
NM_000251.2(MSH2):c.1352_1353del (p.Gln451fs) rs63750957
NM_000251.2(MSH2):c.1354G>T (p.Glu452Ter) rs267607954
NM_000251.2(MSH2):c.1354_1355insT (p.Glu452fs) rs1114167850
NM_000251.2(MSH2):c.1384C>T (p.Gln462Ter) rs876657701
NM_000251.2(MSH2):c.1386+1G>A rs267607957
NM_000251.2(MSH2):c.1390G>T (p.Glu464Ter) rs876658223
NM_000251.2(MSH2):c.1394del (p.Asn465fs) rs863225390
NM_000251.2(MSH2):c.1408del (p.Leu469_Val470insTer) rs63750384
NM_000251.2(MSH2):c.1442T>G (p.Leu481Ter) rs786203036
NM_000251.2(MSH2):c.1444dup (p.Arg482fs) rs63750068
NM_000251.2(MSH2):c.1453_1456ATGA[1] (p.Asn486fs) rs1114167806
NM_000251.2(MSH2):c.1453_1456ATGA[3] (p.Asp487delinsGluTer) rs1114167806
NM_000251.2(MSH2):c.1462_1463del (p.Leu488fs) rs876658834
NM_000251.2(MSH2):c.1477C>T (p.Gln493Ter) rs63750936
NM_000251.2(MSH2):c.1510+2T>C rs1060502023
NM_000251.2(MSH2):c.1511-2A>G rs267607962
NM_000251.2(MSH2):c.1533del (p.Lys512fs) rs1114167853
NM_000251.2(MSH2):c.1563T>A (p.Tyr521Ter) rs63750330
NM_000251.2(MSH2):c.1565_1568del (p.Tyr522fs) rs1064793561
NM_000251.2(MSH2):c.1570del (p.Arg524fs) rs1064795653
NM_000251.2(MSH2):c.1576dup (p.Thr526fs) rs63750094
NM_000251.2(MSH2):c.1578del (p.Cys527fs) rs63750738
NM_000251.2(MSH2):c.1579dup (p.Cys527fs) rs1553366583
NM_000251.2(MSH2):c.1587_1597delinsT (p.Glu529fs) rs1114167820
NM_000251.2(MSH2):c.160del (p.Ala54fs) rs876660480
NM_000251.2(MSH2):c.1648A>T (p.Lys550Ter) rs1558511191
NM_000251.2(MSH2):c.1649_1650del (p.Lys550fs) rs1114167835
NM_000251.2(MSH2):c.1656del (p.Asn553fs) rs1114167817
NM_000251.2(MSH2):c.1661+1G>T rs267607969
NM_000251.2(MSH2):c.1661G>A (p.Ser554Asn) rs63750597
NM_000251.2(MSH2):c.1661G>C (p.Ser554Thr) rs63750597
NM_000251.2(MSH2):c.1662-1G>A rs267607970
NM_000251.2(MSH2):c.1681G>T (p.Glu561Ter) rs63750328
NM_000251.2(MSH2):c.1684G>T (p.Glu562Ter) rs1114167816
NM_000251.2(MSH2):c.1687dup (p.Tyr563fs) rs587779103
NM_000251.2(MSH2):c.1697del (p.Asn566fs) rs63750737
NM_000251.2(MSH2):c.1700_1704del (p.Lys567fs) rs63750474
NM_000251.2(MSH2):c.1705_1706del (p.Glu569fs) rs63750393
NM_000251.2(MSH2):c.1738G>T (p.Glu580Ter) rs63751411
NM_000251.2(MSH2):c.1757C>G (p.Ser586Ter) rs1114167854
NM_000251.2(MSH2):c.1759+1G>A rs587779108
NM_000251.2(MSH2):c.1759+2T>A rs267607976
NM_000251.2(MSH2):c.175A>T (p.Lys59Ter) rs771255106
NM_000251.2(MSH2):c.1760-1G>A rs587779110
NM_000251.2(MSH2):c.1782dup (p.Leu595fs) rs876658940
NM_000251.2(MSH2):c.1784T>G (p.Leu595Arg) rs786201590
NM_000251.2(MSH2):c.1784dup (p.Asn596fs) rs1553368518
NM_000251.2(MSH2):c.1786_1788del (p.Asn596del) rs63749831
NM_000251.2(MSH2):c.1787dup (p.Asn596fs) rs587779111
NM_000251.2(MSH2):c.1793del (p.Val598fs) rs786202790
NM_000251.2(MSH2):c.1794_1803del (p.Val598_Leu599insTer) rs1553368540
NM_000251.2(MSH2):c.1801C>T (p.Gln601Ter) rs63750047
NM_000251.2(MSH2):c.1803dup (p.Leu602fs) rs786203704
NM_000251.2(MSH2):c.1809dup (p.Ala604fs) rs1114167876
NM_000251.2(MSH2):c.181C>T (p.Gln61Ter) rs63750951
NM_000251.2(MSH2):c.1827del (p.His610fs) rs587779112
NM_000251.2(MSH2):c.182del (p.Gln61fs) rs1553348882
NM_000251.2(MSH2):c.1834del (p.Ser612fs) rs1114167879
NM_000251.2(MSH2):c.1835C>G (p.Ser612Ter) rs63750493
NM_000251.2(MSH2):c.1838dup (p.Asn613fs) rs1114167815
NM_000251.2(MSH2):c.1843_1844del (p.Ala615fs) rs1114167856
NM_000251.2(MSH2):c.1861C>T (p.Arg621Ter) rs63750508
NM_000251.2(MSH2):c.1865C>T (p.Pro622Leu) rs28929483
NM_000251.2(MSH2):c.186_187dup (p.Val63fs) rs63750160
NM_000251.2(MSH2):c.187del (p.Gly62_Val63insTer) rs63750160
NM_000251.2(MSH2):c.187dup (p.Val63fs) rs63750160
NM_000251.2(MSH2):c.1883del (p.Gly628fs) rs1064795127
NM_000251.2(MSH2):c.1888G>T (p.Gly630Ter) rs1114167866
NM_000251.2(MSH2):c.1901T>G (p.Leu634Ter) rs1114167811
NM_000251.2(MSH2):c.1906G>C (p.Ala636Pro) rs63750875
NM_000251.2(MSH2):c.1911del (p.Arg638fs) rs63750893
NM_000251.2(MSH2):c.1915C>T (p.His639Tyr) rs28929484
NM_000251.2(MSH2):c.1924_1928delinsTTTC (p.Val642fs) rs1114167882
NM_000251.2(MSH2):c.192dup (p.Lys65fs) rs1553348896
NM_000251.2(MSH2):c.1930del (p.Val644fs) rs1114167823
NM_000251.2(MSH2):c.1933C>T (p.Gln645Ter) rs267607982
NM_000251.2(MSH2):c.1942_1945del (p.Ile648fs) rs1553368675
NM_000251.2(MSH2):c.1950dup (p.Ile651fs) rs1114167844
NM_000251.2(MSH2):c.1968C>A (p.Tyr656Ter) rs63751317
NM_000251.2(MSH2):c.1968del (p.Phe657fs) rs1114167805
NM_000251.2(MSH2):c.2004delinsCA (p.Gly669fs) rs876659961
NM_000251.2(MSH2):c.2006-1G>C rs267607988
NM_000251.2(MSH2):c.2006G>T (p.Gly669Val) rs63751640
NM_000251.2(MSH2):c.2013del (p.Asn671fs) rs1553368988
NM_000251.2(MSH2):c.2038C>T (p.Arg680Ter) rs63749932
NM_000251.2(MSH2):c.2041C>T (p.Gln681Ter) rs730881762
NM_000251.2(MSH2):c.2046_2047del (p.Val684fs) rs587779131
NM_000251.2(MSH2):c.2047G>A (p.Gly683Arg) rs267607995
NM_000251.2(MSH2):c.204del (p.Pro69fs) rs63750199
NM_000251.2(MSH2):c.2063T>G (p.Met688Arg) rs63749993
NM_000251.2(MSH2):c.2074G>A (p.Gly692Arg) rs63750232
NM_000251.2(MSH2):c.2074G>C (p.Gly692Arg) rs63750232
NM_000251.2(MSH2):c.2090G>T (p.Cys697Phe) rs63750398
NM_000251.2(MSH2):c.2096C>G (p.Ser699Ter) rs587779136
NM_000251.2(MSH2):c.20del (p.Glu7fs) rs267607915
NM_000251.2(MSH2):c.211+1G>T rs1114167883
NM_000251.2(MSH2):c.2113del (p.Val705fs) rs63749811
NM_000251.2(MSH2):c.212-1G>A rs267607914
NM_000251.2(MSH2):c.212-1_221delinsCAC rs876660533
NM_000251.2(MSH2):c.2128del (p.Ala710fs) rs1114167864
NM_000251.2(MSH2):c.2131C>T (p.Arg711Ter) rs63750636
NM_000251.2(MSH2):c.2152C>T (p.Gln718Ter) rs587779139
NM_000251.2(MSH2):c.217_227del (p.Lys73fs) rs1114167863
NM_000251.2(MSH2):c.2210+1G>A rs267608002
NM_000251.2(MSH2):c.2211-1G>T rs267607979
NM_000251.2(MSH2):c.2228C>G (p.Ser743Ter) rs63751155
NM_000251.2(MSH2):c.2246_2250del (p.Glu749fs) rs1553369665
NM_000251.2(MSH2):c.2269dup (p.Tyr757fs) rs1114167824
NM_000251.2(MSH2):c.226C>T (p.Gln76Ter) rs63750042
NM_000251.2(MSH2):c.2275G>T (p.Gly759Ter) rs63749854
NM_000251.2(MSH2):c.227_228AG[1] (p.Ser77fs) rs63749848
NM_000251.2(MSH2):c.2291G>A (p.Trp764Ter) rs587779143
NM_000251.2(MSH2):c.2292G>A (p.Trp764Ter) rs63751105
NM_000251.2(MSH2):c.2295_2296insTA (p.Ile766Ter) rs863225393
NM_000251.2(MSH2):c.2297del (p.Ile766fs) rs863225394
NM_000251.2(MSH2):c.2300C>G (p.Ser767Ter) rs863225395
NM_000251.2(MSH2):c.2314del (p.Thr772fs) rs1114167862
NM_000251.2(MSH2):c.2333_2334delinsT (p.Cys778fs) rs1114167872
NM_000251.2(MSH2):c.2334C>A (p.Cys778Ter) rs63750618
NM_000251.2(MSH2):c.2335dup (p.Met779fs) rs63750149
NM_000251.2(MSH2):c.2362dup (p.Thr788fs) rs63750463
NM_000251.2(MSH2):c.2381_2385dup (p.Thr796fs) rs1114167832
NM_000251.2(MSH2):c.2388del (p.Val797fs) rs63749983
NM_000251.2(MSH2):c.2393_2396del (p.Asn798fs) rs1114167826
NM_000251.2(MSH2):c.2413dup (p.Leu805fs) rs1114167837
NM_000251.2(MSH2):c.2421_2422delinsCT (p.Glu808Ter) rs1553369812
NM_000251.2(MSH2):c.2458+1G>A rs267608010
NM_000251.2(MSH2):c.2459-2A>G rs267608011
NM_000251.2(MSH2):c.2459_2460GT[1] (p.Val821fs) rs1114167828
NM_000251.2(MSH2):c.2464_2465TG[1] (p.Cys822_Asp823delinsTer) rs63751621
NM_000251.2(MSH2):c.2470C>T (p.Gln824Ter) rs63750623
NM_000251.2(MSH2):c.2502_2508del (p.Asn835fs) rs63751447
NM_000251.2(MSH2):c.251del (p.Asn84fs) rs786202037
NM_000251.2(MSH2):c.2520_2521delinsT (p.Val840_Ile841insTer) rs587779147
NM_000251.2(MSH2):c.2551_2552insCA (p.Leu851fs) rs1553370381
NM_000251.2(MSH2):c.2562del (p.Gln855fs) rs1114167836
NM_000251.2(MSH2):c.2579C>A (p.Ser860Ter) rs63750849
NM_000251.2(MSH2):c.2581C>T (p.Gln861Ter) rs63750291
NM_000251.2(MSH2):c.2593dup (p.Ile865fs) rs1553370443
NM_000251.2(MSH2):c.2629_2630AG[2] (p.Glu878fs) rs63751618
NM_000251.2(MSH2):c.2634+1G>A rs267608019
NM_000251.2(MSH2):c.2634+2T>G rs876660546
NM_000251.2(MSH2):c.2634+5G>C rs267608017
NM_000251.2(MSH2):c.2634G>A (p.Glu878=) rs63751624
NM_000251.2(MSH2):c.2635-1G>C rs267608020
NM_000251.2(MSH2):c.2635C>T (p.Gln879Ter) rs63751469
NM_000251.2(MSH2):c.2647del (p.Ile883fs) rs63750084
NM_000251.2(MSH2):c.2647dup (p.Ile883fs) rs63750084
NM_000251.2(MSH2):c.2653C>T (p.Gln885Ter) rs63750808
NM_000251.2(MSH2):c.2662del (p.Leu888fs) rs63751007
NM_000251.2(MSH2):c.2668A>T (p.Lys890Ter) rs1114167880
NM_000251.2(MSH2):c.2680dup (p.Met894fs) rs876658211
NM_000251.2(MSH2):c.289C>T (p.Gln97Ter) rs63750970
NM_000251.2(MSH2):c.289del (p.Gln97fs) rs1114167808
NM_000251.2(MSH2):c.301G>T (p.Glu101Ter) rs63750318
NM_000251.2(MSH2):c.309del (p.Val102_Tyr103insTer) rs1114167874
NM_000251.2(MSH2):c.34dup (p.Glu12fs) rs63750614
NM_000251.2(MSH2):c.362del (p.Tyr121fs) rs1114167831
NM_000251.2(MSH2):c.363T>G (p.Tyr121Ter) rs63750458
NM_000251.2(MSH2):c.365delinsCGG (p.Lys122fs) rs1114167829
NM_000251.2(MSH2):c.381_382TC[3] (p.Gln130fs) rs63750924
NM_000251.2(MSH2):c.388_389del (p.Gln130fs) rs63750704
NM_000251.2(MSH2):c.408del (p.Phe136fs) rs63750408
NM_000251.2(MSH2):c.419_420AT[1] (p.Met141fs) rs1553350680
NM_000251.2(MSH2):c.420dup (p.Met141fs) rs1114167810
NM_000251.2(MSH2):c.425C>A (p.Ser142Ter) rs63750910
NM_000251.2(MSH2):c.443del (p.Val148fs) rs1553350721
NM_000251.2(MSH2):c.454dup (p.Met152fs) rs63751449
NM_000251.2(MSH2):c.465_466delinsA (p.Asp156fs) rs1114167884
NM_000251.2(MSH2):c.484G>A (p.Gly162Arg) rs63750624
NM_000251.2(MSH2):c.490G>A (p.Gly164Arg) rs63750582
NM_000251.2(MSH2):c.490G>T (p.Gly164Trp) rs63750582
NM_000251.2(MSH2):c.508C>T (p.Gln170Ter) rs63750843
NM_000251.2(MSH2):c.513del (p.Lys172fs) rs63750933
NM_000251.2(MSH2):c.524_525TG[2] (p.Cys176_Glu177delinsTer) rs587779164
NM_000251.2(MSH2):c.525_532del (p.Cys176fs) rs1114167877
NM_000251.2(MSH2):c.535_536del (p.Phe178_Pro179insTer) rs1114167812
NM_000251.2(MSH2):c.536del (p.Pro179fs) rs1114167812
NM_000251.2(MSH2):c.547C>T (p.Gln183Ter) rs63750037
NM_000251.2(MSH2):c.563del (p.Glu188fs) rs1114167885
NM_000251.2(MSH2):c.565_566dup (p.Leu191fs) rs1114167855
NM_000251.2(MSH2):c.568_570CTC[1] (p.Leu191del) rs587779165
NM_000251.2(MSH2):c.577C>T (p.Gln193Ter) rs63751326
NM_000251.2(MSH2):c.587del (p.Pro196fs) rs63750682
NM_000251.2(MSH2):c.592G>T (p.Glu198Ter) rs587779166
NM_000251.2(MSH2):c.602T>A (p.Leu201Ter) rs1114167839
NM_000251.2(MSH2):c.633del (p.Lys212fs) rs1114167821
NM_000251.2(MSH2):c.645+1G>A rs267607689
NM_000251.2(MSH2):c.645+1G>T rs267607689
NM_000251.2(MSH2):c.645+2T>G rs876658996
NM_000251.2(MSH2):c.646-1G>C rs1114167888
NM_000251.2(MSH2):c.646-4_655del rs1114167851
NM_000251.2(MSH2):c.650_654del (p.Ile217fs) rs63751602
NM_000251.2(MSH2):c.656_664delGAGGAGGAAins13 (p.?)
NM_000251.2(MSH2):c.676_679GAAA[1] (p.Arg227fs) rs587782537
NM_000251.2(MSH2):c.680_681del (p.Arg227fs) rs1558461683
NM_000251.2(MSH2):c.687_688insT (p.Ala230fs) rs63750364
NM_000251.2(MSH2):c.687dup (p.Ala230fs) rs63749897
NM_000251.2(MSH2):c.704_705del (p.Lys235fs) rs281864944
NM_000251.2(MSH2):c.705del (p.Asp236fs) rs281864944
NM_000251.2(MSH2):c.70C>T (p.Gln24Ter) rs587779976
NM_000251.2(MSH2):c.710_716del (p.Ile237fs) rs1114167807
NM_000251.2(MSH2):c.715C>T (p.Gln239Ter) rs63750488
NM_000251.2(MSH2):c.729dup (p.Leu244fs) rs1553351651
NM_000251.2(MSH2):c.731del (p.Leu244fs) rs876660655
NM_000251.2(MSH2):c.746del (p.Lys249fs) rs63749832
NM_000251.2(MSH2):c.748G>T (p.Gly250Ter) rs864622183
NM_000251.2(MSH2):c.754C>T (p.Gln252Ter) rs63750347
NM_000251.2(MSH2):c.75del (p.Met26fs) rs1553348760
NM_000251.2(MSH2):c.790C>T (p.Gln264Ter) rs878853824
NM_000251.2(MSH2):c.790dup (p.Gln264fs) rs1114167814
NM_000251.2(MSH2):c.792+1delG rs1064794155
NM_000251.2(MSH2):c.793-1G>A rs863225397
NM_000251.2(MSH2):c.811_814del (p.Ser271fs) rs587779185
NM_000251.2(MSH2):c.82G>T (p.Glu28Ter) rs63751246
NM_000251.2(MSH2):c.830T>A (p.Leu277Ter) rs786203424
NM_000251.2(MSH2):c.830T>G (p.Leu277Ter) rs786203424
NM_000251.2(MSH2):c.842C>G (p.Ser281Ter) rs63749991
NM_000251.2(MSH2):c.850dup (p.Ser284fs) rs1114167860
NM_000251.2(MSH2):c.858del (p.Phe286fs) rs1553352474
NM_000251.2(MSH2):c.860dup (p.Gln288fs) rs193922375
NM_000251.2(MSH2):c.868G>T (p.Glu290Ter) rs587779190
NM_000251.2(MSH2):c.870_874del (p.Glu290fs) rs1114167848
NM_000251.2(MSH2):c.871del (p.Glu290_Leu291insTer) rs1064794809
NM_000251.2(MSH2):c.873_876del (p.Thr292fs) rs587779191
NM_000251.2(MSH2):c.882del (p.Phe294fs) rs63751115
NM_000251.2(MSH2):c.892C>T (p.Gln298Ter) rs63750934
NM_000251.2(MSH2):c.896_897AT[3] (p.Met300fs) rs63750885
NM_000251.2(MSH2):c.913dup (p.Ala305fs) rs786203604
NM_000251.2(MSH2):c.932del (p.Asn311fs) rs587779979
NM_000251.2(MSH2):c.940C>T (p.Gln314Ter) rs1114167845
NM_000251.2(MSH2):c.942+1G>T rs587779193
NM_000251.2(MSH2):c.942+2T>A rs587779195
NM_000251.2(MSH2):c.942+2T>C rs587779195
NM_000251.2(MSH2):c.942+2T>G rs587779195
NM_000251.2(MSH2):c.942+3A>T rs193922376
NM_000251.2(MSH2):c.943-1G>C rs12476364
NM_000251.2(MSH2):c.943-1G>T rs12476364
NM_000251.2(MSH2):c.943-2A>G rs587779198
NM_000251.2(MSH2):c.959_962del (p.Thr320fs) rs1114167825
NM_000251.2(MSH2):c.989dup (p.Asn331fs) rs1114167813
NM_000251.2(MSH2):c.998G>A (p.Cys333Tyr) rs63750828

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