ClinVar Miner

List of variants studied for Lynch syndrome by Mendelics

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 448
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HGVS dbSNP
NM_000179.2(MSH6):c.-46T>G rs748339592
NM_000179.2(MSH6):c.1019T>C (p.Phe340Ser) rs61753793
NM_000179.2(MSH6):c.1050C>T (p.Ala350=) rs730881802
NM_000179.2(MSH6):c.1054G>A (p.Val352Ile) rs730881787
NM_000179.2(MSH6):c.107C>T (p.Ala36Val) rs61756469
NM_000179.2(MSH6):c.1120A>G (p.Lys374Glu) rs1558660575
NM_000179.2(MSH6):c.1127A>G (p.Glu376Gly) rs764150912
NM_000179.2(MSH6):c.116G>A (p.Gly39Glu) rs1042821
NM_000179.2(MSH6):c.1186C>G (p.Leu396Val) rs2020908
NM_000179.2(MSH6):c.1190A>G (p.Tyr397Cys) rs63750065
NM_000179.2(MSH6):c.124C>T (p.Pro42Ser) rs34014629
NM_000179.2(MSH6):c.1321C>G (p.Leu441Val) rs1553412749
NM_000179.2(MSH6):c.1403G>A (p.Arg468His) rs41295268
NM_000179.2(MSH6):c.1406A>G (p.Tyr469Cys) rs748165218
NM_000179.2(MSH6):c.1508C>G (p.Ser503Cys) rs63750897
NM_000179.2(MSH6):c.1508C>T (p.Ser503Phe) rs63750897
NM_000179.2(MSH6):c.1526T>C (p.Val509Ala) rs63751005
NM_000179.2(MSH6):c.161G>C (p.Gly54Ala) rs63751098
NM_000179.2(MSH6):c.1623C>T (p.Ser541=) rs777678406
NM_000179.2(MSH6):c.1651G>A (p.Gly551Ser) rs1558662449
NM_000179.2(MSH6):c.1661G>A (p.Arg554His) rs730881791
NM_000179.2(MSH6):c.1696G>A (p.Gly566Arg) rs63749973
NM_000179.2(MSH6):c.1729C>T (p.Arg577Cys) rs542838372
NM_000179.2(MSH6):c.1730G>A (p.Arg577His) rs376220212
NM_000179.2(MSH6):c.175C>A (p.Pro59Thr) rs761033647
NM_000179.2(MSH6):c.1814C>G (p.Thr605Ser) rs587781616
NM_000179.2(MSH6):c.183G>C (p.Ala61=) rs1060504757
NM_000179.2(MSH6):c.1844G>C (p.Cys615Ser) rs730881793
NM_000179.2(MSH6):c.1875C>T (p.Ser625=) rs63749886
NM_000179.2(MSH6):c.1932G>C (p.Arg644Ser) rs34938432
NM_000179.2(MSH6):c.204G>A (p.Lys68=) rs864622565
NM_000179.2(MSH6):c.2107A>G (p.Met703Val) rs751867550
NM_000179.2(MSH6):c.2161A>G (p.Arg721Gly) rs537604099
NM_000179.2(MSH6):c.2173A>G (p.Ile725Val) rs148898662
NM_000179.2(MSH6):c.2180C>T (p.Thr727Ile) rs767861096
NM_000179.2(MSH6):c.2347T>A (p.Cys783Ser) rs373721483
NM_000179.2(MSH6):c.2398G>C (p.Val800Leu) rs61748083
NM_000179.2(MSH6):c.2408A>G (p.Asp803Gly) rs63751450
NM_000179.2(MSH6):c.2419G>A (p.Glu807Lys) rs587779923
NM_000179.2(MSH6):c.2479A>G (p.Asn827Asp) rs878853716
NM_000179.2(MSH6):c.2480A>C (p.Asn827Thr) rs1558665569
NM_000179.2(MSH6):c.253C>T (p.Pro85Ser) rs779664343
NM_000179.2(MSH6):c.2561A>T (p.Lys854Met) rs34374438
NM_000179.2(MSH6):c.2629G>A (p.Glu877Lys) rs730881797
NM_000179.2(MSH6):c.2633T>C (p.Val878Ala) rs2020912
NM_000179.2(MSH6):c.2640_2641insAAA (p.Gly881_Phe882insLys) rs1252374906
NM_000179.2(MSH6):c.2667G>T (p.Gln889His) rs149945495
NM_000179.2(MSH6):c.2693C>G (p.Pro898Arg) rs876661281
NM_000179.2(MSH6):c.2732G>A (p.Arg911Gln) rs761622304
NM_000179.2(MSH6):c.2752C>T (p.His918Tyr) rs1558666591
NM_000179.2(MSH6):c.275C>T (p.Pro92Leu) rs1257646433
NM_000179.2(MSH6):c.2963G>T (p.Arg988Leu) rs115386788
NM_000179.2(MSH6):c.2982C>T (p.Tyr994=) rs367758473
NM_000179.2(MSH6):c.3018C>A (p.Tyr1006Ter) rs1553414395
NM_000179.2(MSH6):c.3019T>C (p.Trp1007Arg) rs1553414398
NM_000179.2(MSH6):c.3100C>T (p.Arg1034Trp) rs587779930
NM_000179.2(MSH6):c.3151G>A (p.Val1051Ile) rs576269342
NM_000179.2(MSH6):c.3153A>G (p.Val1051=) rs1057521587
NM_000179.2(MSH6):c.3160A>T (p.Ile1054Phe) rs267608075
NM_000179.2(MSH6):c.3217C>T (p.Pro1073Ser) rs142254875
NM_000179.2(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617
NM_000179.2(MSH6):c.3245C>T (p.Pro1082Leu) rs191109849
NM_000179.2(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000179.2(MSH6):c.3260C>G (p.Pro1087Arg) rs63750753
NM_000179.2(MSH6):c.3270G>C (p.Glu1090Asp) rs876660165
NM_000179.2(MSH6):c.3300G>A (p.Thr1100=) rs540252208
NM_000179.2(MSH6):c.3307T>G (p.Phe1103Val) rs1553331522
NM_000179.2(MSH6):c.3314G>T (p.Gly1105Val) rs1060502910
NM_000179.2(MSH6):c.334A>G (p.Asn112Asp) rs864622397
NM_000179.2(MSH6):c.3452C>G (p.Ala1151Gly) rs587782625
NM_000179.2(MSH6):c.3478G>A (p.Val1160Ile) rs376799914
NM_000179.2(MSH6):c.34C>A (p.Pro12Thr) rs587782084
NM_000179.2(MSH6):c.3513T>C (p.Asp1171=) rs63749834
NM_000179.2(MSH6):c.3524C>G (p.Thr1175Ser) rs369583604
NM_000179.2(MSH6):c.3557-2del rs587779271
NM_000179.2(MSH6):c.3557-40T>A rs189436849
NM_000179.2(MSH6):c.3557-4del rs267608102
NM_000179.2(MSH6):c.3598A>G (p.Ile1200Val) rs781627838
NM_000179.2(MSH6):c.359T>C (p.Ile120Thr) rs775971872
NM_000179.2(MSH6):c.3613_3615dup (p.Thr1205dup) rs1558390840
NM_000179.2(MSH6):c.3636G>T (p.Val1212=) rs1363247790
NM_000179.2(MSH6):c.3727A>T (p.Thr1243Ser) rs147453999
NM_000179.2(MSH6):c.3753_3756dup (p.Val1253fs) rs876661222
NM_000179.2(MSH6):c.3801+17T>C rs3136365
NM_000179.2(MSH6):c.3841G>C (p.Glu1281Gln) rs876659115
NM_000179.2(MSH6):c.3847A>G (p.Ile1283Val) rs144714869
NM_000179.2(MSH6):c.3851C>T (p.Thr1284Met) rs63750836
NM_000179.2(MSH6):c.3904G>A (p.Ala1302Thr) rs1553333561
NM_000179.2(MSH6):c.3911G>A (p.Arg1304Lys) rs34625968
NM_000179.2(MSH6):c.3936T>C (p.Val1312=) rs61753796
NM_000179.2(MSH6):c.3961A>G (p.Arg1321Gly) rs41295278
NM_000179.2(MSH6):c.3986C>T (p.Ser1329Leu) rs199594809
NM_000179.2(MSH6):c.3992G>A (p.Arg1331Gln) rs184131049
NM_000179.2(MSH6):c.3996_3999dup (p.Arg1334fs) rs1553333753
NM_000179.2(MSH6):c.4001+11_4001+15dup rs587779302
NM_000179.2(MSH6):c.4001+27TAAC[3] rs267608136
NM_000179.2(MSH6):c.4001+2TAAC[2] rs267608132
NM_000179.2(MSH6):c.4001+2TAAC[4] rs267608132
NM_000179.2(MSH6):c.4001+42_4001+44dup rs926031657
NM_000179.2(MSH6):c.4002-10T>A rs545466048
NM_000179.2(MSH6):c.4002-11_4002-10del rs59056100
NM_000179.2(MSH6):c.4002-12_4002-10dup rs59056100
NM_000179.2(MSH6):c.4002-4T>C rs370428032
NM_000179.2(MSH6):c.4004A>C (p.Glu1335Ala) rs564434147
NM_000179.2(MSH6):c.4034_4042del (p.Val1345_Ala1347del) rs864622703
NM_000179.2(MSH6):c.423C>G (p.Gly141=) rs777587467
NM_000179.2(MSH6):c.431G>T (p.Ser144Ile) rs3211299
NM_000179.2(MSH6):c.457+13A>G rs1800933
NM_000179.2(MSH6):c.457+32TG[12] rs397839804
NM_000179.2(MSH6):c.532C>T (p.Arg178Cys) rs730881813
NM_000179.2(MSH6):c.533G>A (p.Arg178His) rs786204186
NM_000179.2(MSH6):c.545C>G (p.Ala182Gly) rs876659786
NM_000179.2(MSH6):c.627+26_627+37del rs1558656848
NM_000179.2(MSH6):c.627+9C>T rs373155872
NM_000179.2(MSH6):c.628-7C>A rs373129248
NM_000179.2(MSH6):c.650A>G (p.Asp217Gly) rs554012110
NM_000179.2(MSH6):c.660A>C (p.Glu220Asp) rs1800938
NM_000179.2(MSH6):c.663A>C (p.Glu221Asp) rs41557217
NM_000179.2(MSH6):c.818G>T (p.Gly273Val) rs769610487
NM_000179.2(MSH6):c.884A>G (p.Lys295Arg) rs267608051
NM_000179.2(MSH6):c.905G>C (p.Arg302Thr) rs587781510
NM_000179.2(MSH6):c.923G>C (p.Gly308Ala) rs1553412354
NM_000179.2(MSH6):c.998C>T (p.Thr333Ile) rs587781983
NM_000179.3(MSH6):c.2082C>A (p.Cys694Ter)
NM_000179.3(MSH6):c.2298T>G (p.His766Gln)
NM_000179.3(MSH6):c.2641G>A (p.Gly881Ser)
NM_000179.3(MSH6):c.2892T>A (p.Cys964Ter)
NM_000179.3(MSH6):c.3172+230_3172+231dup
NM_000179.3(MSH6):c.3173-35C>T
NM_000179.3(MSH6):c.3557-16T>A
NM_000179.3(MSH6):c.3646G>C (p.Gly1216Arg)
NM_000179.3(MSH6):c.378A>G (p.Ser126=)
NM_000179.3(MSH6):c.3802-22G>A
NM_000179.3(MSH6):c.4001+50_4001+51dup
NM_000179.3(MSH6):c.4002-10dup
NM_000179.3(MSH6):c.4002-26_4002-25insCTTT
NM_000179.3(MSH6):c.4002-28del
NM_000179.3(MSH6):c.4002-36C>A
NM_000179.3(MSH6):c.4022_4077dup (p.Leu1360delinsLysGlyGlnLeuTer) rs1553334006
NM_000179.3(MSH6):c.520A>C (p.Arg174=)
NM_000249.3(MLH1):c.-107C>G rs587778886
NM_000249.3(MLH1):c.-269C>G rs35032294
NM_000249.3(MLH1):c.-28A>G rs56198082
NM_000249.3(MLH1):c.1013A>G (p.Asn338Ser) rs63751467
NM_000249.3(MLH1):c.1038+4A>C rs1251478879
NM_000249.3(MLH1):c.1038+8C>T rs751872237
NM_000249.3(MLH1):c.1039-8T>A rs193922367
NM_000249.3(MLH1):c.1050A>G (p.Pro350=) rs137937003
NM_000249.3(MLH1):c.1117G>A (p.Gly373Arg) rs766904735
NM_000249.3(MLH1):c.1154G>A (p.Arg385His) rs63750430
NM_000249.3(MLH1):c.1216A>G (p.Ser406Gly) rs864622687
NM_000249.3(MLH1):c.1217G>A (p.Ser406Asn) rs41294980
NM_000249.3(MLH1):c.1253A>G (p.Asp418Gly) rs754898711
NM_000249.3(MLH1):c.1270G>A (p.Ala424Thr) rs377433038
NM_000249.3(MLH1):c.1276C>T (p.Gln426Ter) rs63750316
NM_000249.3(MLH1):c.1278_1279insTG (p.Gln427fs) rs1559553492
NM_000249.3(MLH1):c.1321G>A (p.Ala441Thr) rs63750365
NM_000249.3(MLH1):c.1344G>T (p.Glu448Asp) rs587779952
NM_000249.3(MLH1):c.1387G>T (p.Gly463Ter) rs1559554339
NM_000249.3(MLH1):c.1392T>C (p.Pro464=) rs63750201
NM_000249.3(MLH1):c.1410-2A>G rs746536721
NM_000249.3(MLH1):c.1420C>G (p.Arg474Gly) rs147939838
NM_000249.3(MLH1):c.1453G>T (p.Asp485Tyr) rs63750314
NM_000249.3(MLH1):c.1514G>A (p.Ser505Asn) rs771044689
NM_000249.3(MLH1):c.1541A>G (p.Asn514Ser) rs772245091
NM_000249.3(MLH1):c.1565G>A (p.Arg522Gln) rs63751630
NM_000249.3(MLH1):c.1587C>T (p.Ser529=) rs767089159
NM_000249.3(MLH1):c.1615G>T (p.Ala539Ser) rs1559575256
NM_000249.3(MLH1):c.1667+2T>C rs878853780
NM_000249.3(MLH1):c.1709A>G (p.Asn570Ser) rs375853155
NM_000249.3(MLH1):c.1732-19T>A rs77120160
NM_000249.3(MLH1):c.1742C>T (p.Pro581Leu) rs63751684
NM_000249.3(MLH1):c.1808C>G (p.Pro603Arg) rs63750876
NM_000249.3(MLH1):c.1820T>A (p.Leu607His) rs41295284
NM_000249.3(MLH1):c.1852A>G (p.Lys618Glu) rs35001569
NM_000249.3(MLH1):c.1853A>C (p.Lys618Thr) rs63750449
NM_000249.3(MLH1):c.186A>G (p.Gln62=) rs1559506261
NM_000249.3(MLH1):c.1876T>C (p.Phe626Leu) rs377241633
NM_000249.3(MLH1):c.1896+7C>T rs863224339
NM_000249.3(MLH1):c.1897-17C>G rs2308316
NM_000249.3(MLH1):c.191A>G (p.Asn64Ser) rs63750952
NM_000249.3(MLH1):c.1963A>G (p.Ile655Val) rs55907433
NM_000249.3(MLH1):c.198C>T (p.Thr66=) rs61751642
NM_000249.3(MLH1):c.1990-6G>A rs117221851
NM_000249.3(MLH1):c.2027T>C (p.Leu676Pro) rs63750242
NM_000249.3(MLH1):c.204C>G (p.Ile68Met) rs780141938
NM_000249.3(MLH1):c.2065C>T (p.Gln689Ter) rs41542214
NM_000249.3(MLH1):c.2066A>G (p.Gln689Arg) rs63750702
NM_000249.3(MLH1):c.2101C>A (p.Gln701Lys) rs63750114
NM_000249.3(MLH1):c.2104-11G>A rs147984696
NM_000249.3(MLH1):c.2104-22T>G rs267607890
NM_000249.3(MLH1):c.2107G>A (p.Glu703Lys) rs747727493
NM_000249.3(MLH1):c.2146G>A (p.Val716Met) rs35831931
NM_000249.3(MLH1):c.2252A>G (p.Lys751Arg) rs140195825
NM_000249.3(MLH1):c.2262del (p.Arg755fs) rs267607904
NM_000249.3(MLH1):c.253C>T (p.Leu85=) rs63750659
NM_000249.3(MLH1):c.306+6C>T rs746641892
NM_000249.3(MLH1):c.307-19A>G rs121909451
NM_000249.3(MLH1):c.351G>A (p.Thr117=) rs61751643
NM_000249.3(MLH1):c.375A>G (p.Ala125=) rs1800144
NM_000249.3(MLH1):c.381-43C>G rs368847278
NM_000249.3(MLH1):c.438A>G (p.Gln146=) rs377279035
NM_000249.3(MLH1):c.453G>A (p.Thr151=) rs369521379
NM_000249.3(MLH1):c.588+5G>C rs267607768
NM_000249.3(MLH1):c.5C>T (p.Ser2Leu) rs587779029
NM_000249.3(MLH1):c.626A>G (p.Asn209Ser) rs150478207
NM_000249.3(MLH1):c.644A>G (p.Asn215Ser) rs267607775
NM_000249.3(MLH1):c.649C>T (p.Arg217Cys) rs4986984
NM_000249.3(MLH1):c.652T>C (p.Ser218Pro) rs750650349
NM_000249.3(MLH1):c.65G>C (p.Gly22Ala) rs41295280
NM_000249.3(MLH1):c.677G>A (p.Arg226Gln) rs63751711
NM_000249.3(MLH1):c.702G>A (p.Glu234=) rs35908749
NM_000249.3(MLH1):c.743A>G (p.Asn248Ser) rs587782800
NM_000249.3(MLH1):c.790+10A>G rs182733777
NM_000249.3(MLH1):c.791-5T>G rs267607788
NM_000249.3(MLH1):c.803A>G (p.Glu268Gly) rs63750650
NM_000249.3(MLH1):c.845C>G (p.Ala282Gly) rs63750360
NM_000249.3(MLH1):c.884+15A>G rs372817491
NM_000249.3(MLH1):c.884+39G>A rs370283452
NM_000249.3(MLH1):c.885-21TC[2] rs267607804
NM_000249.3(MLH1):c.885-5G>T rs267607802
NM_000249.3(MLH1):c.94A>G (p.Ile32Val) rs2020872
NM_000249.3(MLH1):c.977T>C (p.Val326Ala) rs63751049
NM_000249.4(MLH1):c.1039-31_1039-26del
NM_000249.4(MLH1):c.1039-35A>T
NM_000249.4(MLH1):c.1039-7_1040del
NM_000249.4(MLH1):c.116+27C>T
NM_000249.4(MLH1):c.1281del (p.Asp428fs)
NM_000249.4(MLH1):c.1559-16A>T
NM_000249.4(MLH1):c.1989+37T>C
NM_000249.4(MLH1):c.207+523G>A
NM_000249.4(MLH1):c.946_954del (p.Phe316_His318del)
NM_000251.2(MSH2):c.*226A>G rs17225060
NM_000251.2(MSH2):c.-118T>C rs2303425
NM_000251.2(MSH2):c.-68G>A rs576303132
NM_000251.2(MSH2):c.1045C>G (p.Pro349Ala) rs267607939
NM_000251.2(MSH2):c.1130A>G (p.Gln377Arg) rs776174711
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.1226_1227del (p.Gln409fs) rs63750086
NM_000251.2(MSH2):c.1255C>A (p.Gln419Lys) rs63750006
NM_000251.2(MSH2):c.1286A>C (p.Gln429Pro) rs1558493372
NM_000251.2(MSH2):c.128A>G (p.Tyr43Cys) rs17217723
NM_000251.2(MSH2):c.1307T>C (p.Phe436Ser)
NM_000251.2(MSH2):c.1327C>A (p.Leu443Ile) rs876659906
NM_000251.2(MSH2):c.1331G>A (p.Arg444His) rs557339938
NM_000251.2(MSH2):c.1386+23T>G rs747646424
NM_000251.2(MSH2):c.1387-8G>T rs187525243
NM_000251.2(MSH2):c.1389G>T (p.Val463=) rs1553365702
NM_000251.2(MSH2):c.138C>G (p.His46Gln) rs33946261
NM_000251.2(MSH2):c.1462T>G (p.Leu488Val) rs587781314
NM_000251.2(MSH2):c.1489A>G (p.Ile497Val) rs755501968
NM_000251.2(MSH2):c.14C>A (p.Pro5Gln) rs56170584
NM_000251.2(MSH2):c.1511-41G>C rs202215396
NM_000251.2(MSH2):c.1511-9A>T rs12998837
NM_000251.2(MSH2):c.1547G>A (p.Ser516Asn) rs373564353
NM_000251.2(MSH2):c.1563T>C (p.Tyr521=) rs63750330
NM_000251.2(MSH2):c.1571G>A (p.Arg524His) rs63751207
NM_000251.2(MSH2):c.157G>T (p.Ala53Ser) rs755931648
NM_000251.2(MSH2):c.1595T>C (p.Val532Ala) rs754778750
NM_000251.2(MSH2):c.1661+1G>A rs267607969
NM_000251.2(MSH2):c.1661+1G>T rs267607969
NM_000251.2(MSH2):c.1666T>C (p.Leu556=) rs61756466
NM_000251.2(MSH2):c.1680T>C (p.Asn560=) rs200056411
NM_000251.2(MSH2):c.1690A>G (p.Thr564Ala) rs55778204
NM_000251.2(MSH2):c.1724A>G (p.Asp575Gly) rs370330868
NM_000251.2(MSH2):c.1730T>C (p.Ile577Thr) rs63749910
NM_000251.2(MSH2):c.1737A>G (p.Lys579=) rs61756467
NM_000251.2(MSH2):c.1746C>T (p.Val582=) rs786201486
NM_000251.2(MSH2):c.1787A>G (p.Asn596Ser) rs41295288
NM_000251.2(MSH2):c.1790A>C (p.Asp597Ala) rs548407418
NM_000251.2(MSH2):c.1801_1805del (p.Gln601fs)
NM_000251.2(MSH2):c.1813G>A (p.Val605Ile) rs730881777
NM_000251.2(MSH2):c.1847C>G (p.Pro616Arg) rs587779965
NM_000251.2(MSH2):c.1967A>G (p.Tyr656Cys) rs185356145
NM_000251.2(MSH2):c.1A>G (p.Met1Val) rs267607911
NM_000251.2(MSH2):c.2005+8dup rs267607992
NM_000251.2(MSH2):c.2008C>T (p.Pro670Ser) rs1558519495
NM_000251.2(MSH2):c.2009C>A (p.Pro670His) rs41294982
NM_000251.2(MSH2):c.2012A>G (p.Asn671Ser) rs1558519505
NM_000251.2(MSH2):c.2039G>A (p.Arg680Gln) rs1203462814
NM_000251.2(MSH2):c.2061C>G (p.Leu687=) rs63750032
NM_000251.2(MSH2):c.2064G>A (p.Met688Ile) rs63750790
NM_000251.2(MSH2):c.2111T>C (p.Ile704Thr) rs564657106
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.2154A>G (p.Gln718=) rs63750810
NM_000251.2(MSH2):c.2203A>G (p.Ile735Val) rs2229061
NM_000251.2(MSH2):c.2210+8C>T rs778020437
NM_000251.2(MSH2):c.2243A>T (p.Asp748Val) rs1558521518
NM_000251.2(MSH2):c.2276G>A (p.Gly759Glu) rs386833406
NM_000251.2(MSH2):c.2393A>G (p.Asn798Ser) rs786204073
NM_000251.2(MSH2):c.23C>T (p.Thr8Met) rs17217716
NM_000251.2(MSH2):c.2417C>T (p.Thr806Ile) rs758889557
NM_000251.2(MSH2):c.2437A>G (p.Met813Val) rs63749841
NM_000251.2(MSH2):c.2459-12A>G rs267608012
NM_000251.2(MSH2):c.2459G>A (p.Gly820Asp) rs794729229
NM_000251.2(MSH2):c.2459_2460GT[1] (p.Val821fs) rs1114167828
NM_000251.2(MSH2):c.2516A>G (p.His839Arg) rs63750027
NM_000251.2(MSH2):c.2533A>G (p.Lys845Glu) rs63750571
NM_000251.2(MSH2):c.2581C>T (p.Gln861Ter) rs63750291
NM_000251.2(MSH2):c.2606C>A (p.Ala869Glu) rs730881772
NM_000251.2(MSH2):c.2714C>G (p.Thr905Arg) rs267608022
NM_000251.2(MSH2):c.2717T>C (p.Ile906Thr) rs587780687
NM_000251.2(MSH2):c.274C>G (p.Leu92Val) rs587779154
NM_000251.2(MSH2):c.2766T>G (p.Phe922Leu) rs55859129
NM_000251.2(MSH2):c.2785C>T (p.Arg929Ter) rs551060742
NM_000251.2(MSH2):c.279_281delTCT rs267607919
NM_000251.2(MSH2):c.2801C>T (p.Thr934Met) rs587779969
NM_000251.2(MSH2):c.2802G>A (p.Thr934=) rs150259097
NM_000251.2(MSH2):c.287G>A (p.Arg96His) rs63750002
NM_000251.2(MSH2):c.339G>A (p.Lys113=) rs35898375
NM_000251.2(MSH2):c.382C>G (p.Leu128Val) rs145649774
NM_000251.2(MSH2):c.386C>G (p.Ser129Cys) rs587779972
NM_000251.2(MSH2):c.435T>G (p.Ile145Met) rs63750124
NM_000251.2(MSH2):c.499G>C (p.Asp167His) rs63750255
NM_000251.2(MSH2):c.507A>G (p.Ile169Met) rs748762580
NM_000251.2(MSH2):c.55T>C (p.Phe19Leu) rs141711342
NM_000251.2(MSH2):c.593A>G (p.Glu198Gly) rs63750327
NM_000251.2(MSH2):c.644del (p.Gln215fs) rs1558459885
NM_000251.2(MSH2):c.67T>C (p.Phe23Leu) rs372619120
NM_000251.2(MSH2):c.716A>G (p.Gln239Arg) rs199676483
NM_000251.2(MSH2):c.80C>T (p.Pro27Leu) rs750746034
NM_000251.2(MSH2):c.815C>T (p.Ala272Val) rs34136999
NM_000251.2(MSH2):c.843A>T (p.Ser281=) rs150197753
NM_000251.2(MSH2):c.913G>A (p.Ala305Thr) rs63751454
NM_000251.2(MSH2):c.942+28_942+29del rs11309117
NM_000251.2(MSH2):c.97A>G (p.Thr33Ala) rs63751107
NM_000251.2(MSH2):c.992A>G (p.Asn331Ser) rs779673318
NM_000251.3(MSH2):c.-21A>T
NM_000251.3(MSH2):c.1058del (p.Lys353fs)
NM_000251.3(MSH2):c.198C>G (p.Tyr66Ter)
NM_000251.3(MSH2):c.2005+59_2005+61dup
NM_000251.3(MSH2):c.212-1G>T
NM_000251.3(MSH2):c.212-3_213del
NM_000251.3(MSH2):c.2211-1G>C
NM_000251.3(MSH2):c.2299del (p.Ser767fs)
NM_000251.3(MSH2):c.2332dup (p.Cys778fs)
NM_000251.3(MSH2):c.2459-46G>A
NM_000251.3(MSH2):c.356T>A (p.Leu119Ter)
NM_000251.3(MSH2):c.698C>T (p.Ser233Phe)
NM_000251.3(MSH2):c.942+17_942+29dup
NM_000251.3(MSH2):c.942+22_942+29del
NM_000251.3(MSH2):c.942+22_942+29dup
NM_000251.3(MSH2):c.942+23_942+29dup
NM_000251.3(MSH2):c.942+24_942+29del
NM_000251.3(MSH2):c.942+7_942+29dup
NM_000251.3(MSH2):c.961A>G (p.Thr321Ala)
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser) rs200513014
NM_000535.7(PMS2):c.1047G>A (p.Lys349=)
NM_000535.7(PMS2):c.113C>T (p.Ala38Val) rs148270248
NM_000535.7(PMS2):c.1171G>C (p.Asp391His) rs1064795020
NM_000535.7(PMS2):c.1180A>G (p.Lys394Glu)
NM_000535.7(PMS2):c.1211C>G (p.Pro404Arg) rs536111818
NM_000535.7(PMS2):c.1219A>G (p.Arg407Gly) rs776725795
NM_000535.7(PMS2):c.1243G>A (p.Val415Met) rs138387687
NM_000535.7(PMS2):c.1271T>C (p.Phe424Ser) rs876661186
NM_000535.7(PMS2):c.1280G>A (p.Arg427His) rs112902065
NM_000535.7(PMS2):c.1352G>A (p.Arg451Lys) rs876660834
NM_000535.7(PMS2):c.1354G>C (p.Gly452Arg) rs569947936
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_000535.7(PMS2):c.1432A>G (p.Ser478Gly) rs144389038
NM_000535.7(PMS2):c.1437C>G (p.His479Gln) rs63750685
NM_000535.7(PMS2):c.1473G>C (p.Glu491Asp) rs530105089
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp) rs199739859
NM_000535.7(PMS2):c.1501G>A (p.Val501Met) rs540287433
NM_000535.7(PMS2):c.1511A>G (p.Glu504Gly) rs1254121331
NM_000535.7(PMS2):c.1534G>A (p.Gly512Ser) rs1060503127
NM_000535.7(PMS2):c.1555T>C (p.Tyr519His) rs370236216
NM_000535.7(PMS2):c.1564A>G (p.Ser522Gly)
NM_000535.7(PMS2):c.1593_1610dup (p.His532_Glu537dup) rs587780043
NM_000535.7(PMS2):c.1621A>G (p.Lys541Glu) rs2228006
NM_000535.7(PMS2):c.1633T>C (p.Ser545Pro)
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.1700A>G (p.Gln567Arg) rs112104877
NM_000535.7(PMS2):c.1721del (p.Pro574fs)
NM_000535.7(PMS2):c.1759A>C (p.Ser587Arg)
NM_000535.7(PMS2):c.180C>G (p.Asp60Glu) rs200313585
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_000535.7(PMS2):c.194T>G (p.Leu65Arg) rs749141001
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met) rs587780046
NM_000535.7(PMS2):c.2062A>G (p.Ile688Val) rs1060503144
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325
NM_000535.7(PMS2):c.2167C>G (p.Leu723Val) rs1456057054
NM_000535.7(PMS2):c.2184_2185TC[1] (p.Leu729fs) rs587779335
NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs) rs63750695
NM_000535.7(PMS2):c.2264T>C (p.Ile755Thr) rs386833410
NM_000535.7(PMS2):c.2347G>A (p.Val783Ile) rs553286217
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn) rs143340522
NM_000535.7(PMS2):c.2405G>A (p.Arg802Gln) rs1060503143
NM_000535.7(PMS2):c.2445G>A (p.Ser815=) rs753199796
NM_000535.7(PMS2):c.2502G>T (p.Met834Ile) rs1554292818
NM_000535.7(PMS2):c.2523G>A (p.Trp841Ter) rs587780057
NM_000535.7(PMS2):c.255G>A (p.Leu85=) rs200491279
NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala) rs1802683
NM_000535.7(PMS2):c.353+7C>G rs1057520512
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu) rs116373169
NM_000535.7(PMS2):c.384G>A (p.Ser128=) rs371342884
NM_000535.7(PMS2):c.439A>C (p.Thr147Pro)
NM_000535.7(PMS2):c.446A>C (p.Tyr149Ser) rs1554304003
NM_000535.7(PMS2):c.451C>T (p.Arg151Cys) rs758561884
NM_000535.7(PMS2):c.475G>A (p.Val159Met) rs142416537
NM_000535.7(PMS2):c.497T>C (p.Leu166Pro) rs116349687
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123
NM_000535.7(PMS2):c.538-8T>C rs922948916
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr) rs201343342
NM_000535.7(PMS2):c.552G>T (p.Met184Ile) rs764853641
NM_000535.7(PMS2):c.572A>G (p.Tyr191Cys) rs375289386
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu) rs374704824
NM_000535.7(PMS2):c.706-3C>T rs1229860023
NM_000535.7(PMS2):c.706-4del rs60794673
NM_000535.7(PMS2):c.708G>T (p.Leu236Phe) rs201395630
NM_000535.7(PMS2):c.713G>A (p.Ser238Asn) rs1060503111
NM_000535.7(PMS2):c.714C>A (p.Ser238Arg) rs151251082
NM_000535.7(PMS2):c.750C>T (p.Ser250=) rs200439295
NM_000535.7(PMS2):c.825A>T (p.Gln275His) rs876659736
NM_000535.7(PMS2):c.853_856ACAG[2] (p.Arg287fs) rs267608154
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly) rs116788608
NM_000535.7(PMS2):c.862C>T (p.Gln288Ter)
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala) rs146176004
NM_000535.7(PMS2):c.881G>A (p.Arg294Gln) rs373239341
NM_000535.7(PMS2):c.917T>C (p.Val306Ala) rs786201878
NM_000535.7(PMS2):c.936G>A (p.Met312Ile) rs139194813
NM_000535.7(PMS2):c.948C>A (p.His316Gln)
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys) rs139438201
NM_000535.7(PMS2):c.983A>G (p.Asp328Gly) rs587782852
NM_000535.7(PMS2):c.989-3T>C rs1156325177
NM_001167617.2(MLH1):c.1066G>C (p.Gly356Arg) rs63750527
NM_001167617.2(MLH1):c.1206_1208del (p.Ile403del) rs587778920
NM_001167618.2(MLH1):c.-210G>T rs1559524405
NM_001258281.1(MSH2):c.-31+80T>A rs1189127007
NM_001258281.1(MSH2):c.744+25_744+29del rs11309117
NM_001258281.1(MSH2):c.744+29del rs11309117
NM_001281492.1(MSH6):c.1244_1245del (p.Lys415fs) rs267608064
NM_001281492.1(MSH6):c.1416_1419del (p.Glu474fs) rs63750735
NM_001281492.1(MSH6):c.2871dup (p.Phe958fs) rs267608078
NM_001281492.1(MSH6):c.3581_3583AGA[1] (p.Lys1195del) rs587779300
NM_001281492.1(MSH6):c.3611+4_3611+8dup rs587782853
NM_001281492.1(MSH6):c.3678_3681dup (p.Lys1228delinsAspTer) rs55740729
NM_001281493.1(MSH6):c.-69A>G rs1558659442
NM_001322007.1(PMS2):c.-290T>C
NM_001354630.1(MLH1):c.1732-866del rs1559588540
NM_001354630.1(MLH1):c.1732-939G>T rs1416171624
NM_022055.2(KCNK12):c.*8388G>T
NM_022055.2(KCNK12):c.*8525G>C
NM_025133.4(FBXO11):c.*1173A>T rs2020906
NM_025133.4(FBXO11):c.*906G>T
NM_025133.4(FBXO11):c.824A>G (p.Asn275Ser)

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