ClinVar Miner

List of variants studied for Lynch syndrome by Department of Pathology and Laboratory Medicine,Sinai Health System

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 253
Download table as spreadsheet
HGVS dbSNP
NC_000002.11:g.(?_47709918)_(47710088_?)del
NM_000179.2(MSH6):c.10C>T (p.Gln4Ter) rs786201042
NM_000179.2(MSH6):c.1295T>C (p.Phe432Ser) rs750528093
NM_000179.2(MSH6):c.1299T>G (p.Tyr433Ter) rs267608055
NM_000179.2(MSH6):c.1407T>A (p.Tyr469Ter) rs587781408
NM_000179.2(MSH6):c.1483C>T (p.Arg495Ter) rs587779212
NM_000179.2(MSH6):c.1519dup (p.Arg507fs) rs876658881
NM_000179.2(MSH6):c.1553C>A (p.Thr518Asn) rs1553412945
NM_000179.2(MSH6):c.1571dup (p.Tyr524Ter) rs1553412966
NM_000179.2(MSH6):c.2057G>A (p.Gly686Asp) rs587779227
NM_000179.2(MSH6):c.2061T>A (p.Cys687Ter) rs267608068
NM_000179.2(MSH6):c.2194C>T (p.Arg732Ter) rs63751127
NM_000179.2(MSH6):c.2314C>T (p.Arg772Trp) rs63750138
NM_000179.2(MSH6):c.2316_2317dup (p.Leu773fs) rs1553413693
NM_000179.2(MSH6):c.2690dup (p.Asn897fs) rs1553414010
NM_000179.2(MSH6):c.2731C>T (p.Arg911Ter) rs63751017
NM_000179.2(MSH6):c.2805dup (p.Asp936Ter) rs876659189
NM_000179.2(MSH6):c.2910G>A (p.Trp970Ter) rs765411990
NM_000179.2(MSH6):c.2949G>C (p.Glu983Asp) rs780485157
NM_000179.2(MSH6):c.3142C>T (p.Gln1048Ter) rs200492211
NM_000179.2(MSH6):c.3172G>C (p.Asp1058His) rs863225404
NM_000179.2(MSH6):c.3202C>T (p.Arg1068Ter) rs63749843
NM_000179.2(MSH6):c.3220_3221del (p.Met1074fs) rs1553331290
NM_000179.2(MSH6):c.3226C>G (p.Arg1076Gly) rs63750617
NM_000179.2(MSH6):c.3238_3239del (p.Leu1080fs) rs863225406
NM_000179.2(MSH6):c.3312dup (p.Gly1105fs) rs267608092
NM_000179.2(MSH6):c.3401G>C (p.Gly1134Ala) rs1376398586
NM_000179.2(MSH6):c.3416G>T (p.Gly1139Val) rs1316409501
NM_000179.2(MSH6):c.3438+11_3438+14del rs377746844
NM_000179.2(MSH6):c.3439-1G>T rs587779263
NM_000179.2(MSH6):c.3439-2A>G rs267608098
NM_000179.2(MSH6):c.3439-?_3556+?del
NM_000179.2(MSH6):c.3701_3706dup (p.Glu1234_Leu1235dup) rs63750523
NM_000179.2(MSH6):c.3753_3756dup (p.Val1253fs) rs876661222
NM_000179.2(MSH6):c.3850dup (p.Thr1284fs) rs1553333421
NM_000179.2(MSH6):c.3917_3938dup (p.Gln1314_Lys1315insTer) rs1553333584
NM_000179.2(MSH6):c.3922_3940dup (p.Gln1314fs) rs1553333598
NM_000179.2(MSH6):c.3940C>T (p.Gln1314Ter) rs1416452389
NM_000179.2(MSH6):c.3957dup (p.Ala1320fs) rs587779297
NM_000179.2(MSH6):c.3964G>T (p.Glu1322Ter) rs1553333707
NM_000179.2(MSH6):c.458-?_3556+?del
NM_000179.2(MSH6):c.458-?_627+?del
NM_000179.2(MSH6):c.694C>T (p.Gln232Ter) rs587779318
NM_000179.2(MSH6):c.979A>G (p.Thr327Ala) rs730881814
NM_000179.2:c.1-?_260+?del
NM_000179.2:c.1-?_260+?dup
NM_000179.2:c.1-?_3646+?del
NM_000179.2:c.1-?_4083+?del
NM_000249.3(MLH1):c.-42C>T rs41285097
NM_000249.3(MLH1):c.1039-?_1558+?del
NM_000249.3(MLH1):c.104T>G (p.Met35Arg) rs63749906
NM_000249.3(MLH1):c.116+3A>G rs1553637475
NM_000249.3(MLH1):c.1219C>T (p.Gln407Ter) rs1057517541
NM_000249.3(MLH1):c.1358dup (p.Thr455fs) rs1553651429
NM_000249.3(MLH1):c.1459C>T (p.Arg487Ter) rs63749795
NM_000249.3(MLH1):c.1558+1dup rs1553653237
NM_000249.3(MLH1):c.1559-1G>T rs267607837
NM_000249.3(MLH1):c.1559-2A>G rs267607836
NM_000249.3(MLH1):c.1664T>G (p.Leu555Arg) rs587778937
NM_000249.3(MLH1):c.1667+2T>C rs878853780
NM_000249.3(MLH1):c.1668-1G>A rs267607845
NM_000249.3(MLH1):c.1732-?_1896+?del
NM_000249.3(MLH1):c.1769T>G (p.Leu590Ter) rs1553662753
NM_000249.3(MLH1):c.184C>T (p.Gln62Ter) rs63751428
NM_000249.3(MLH1):c.1918C>T (p.Pro640Ser) rs63749792
NM_000249.3(MLH1):c.1919C>T (p.Pro640Leu) rs267607875
NM_000249.3(MLH1):c.1975C>T (p.Arg659Ter) rs63751310
NM_000249.3(MLH1):c.1989G>T (p.Glu663Asp) rs63751662
NM_000249.3(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000249.3(MLH1):c.2035G>T (p.Glu679Ter) rs587778971
NM_000249.3(MLH1):c.2038T>C (p.Cys680Arg) rs63750809
NM_000249.3(MLH1):c.2040C>A (p.Cys680Ter) rs63749867
NM_000249.3(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.3(MLH1):c.207+1G>A rs267607718
NM_000249.3(MLH1):c.208-3C>T rs267607720
NM_000249.3(MLH1):c.2103+1G>A rs267607888
NM_000249.3(MLH1):c.2194A>T (p.Lys732Ter) rs267607906
NM_000249.3(MLH1):c.2250C>G (p.Tyr750Ter) rs267607893
NM_000249.3(MLH1):c.230G>A (p.Cys77Tyr) rs63750437
NM_000249.3(MLH1):c.250A>G (p.Lys84Glu) rs63750641
NM_000249.3(MLH1):c.298C>T (p.Arg100Ter) rs63751221
NM_000249.3(MLH1):c.306+2T>G rs1553640340
NM_000249.3(MLH1):c.306G>T (p.Glu102Asp) rs63751665
NM_000249.3(MLH1):c.307-?_1667+?dup
NM_000249.3(MLH1):c.322_335del (p.Ser108fs) rs1553641269
NM_000249.3(MLH1):c.332C>T (p.Ala111Val) rs63750539
NM_000249.3(MLH1):c.350C>T (p.Thr117Met) rs63750781
NM_000249.3(MLH1):c.380+1G>A rs267607745
NM_000249.3(MLH1):c.381-?_677+?del
NM_000249.3(MLH1):c.453+1G>T rs267607750
NM_000249.3(MLH1):c.456_545+2del rs1553642657
NM_000249.3(MLH1):c.544A>G (p.Arg182Gly) rs63750211
NM_000249.3(MLH1):c.546-?_1731+?dup
NM_000249.3(MLH1):c.55A>T (p.Ile19Phe) rs63750648
NM_000249.3(MLH1):c.588+5G>A rs267607768
NM_000249.3(MLH1):c.677+3A>G rs267607780
NM_000249.3(MLH1):c.677G>T (p.Arg226Leu) rs63751711
NM_000249.3(MLH1):c.790+1G>A rs267607789
NM_000249.3(MLH1):c.790+2T>C rs267607790
NM_000249.3(MLH1):c.790+4A>G rs267607786
NM_000249.3(MLH1):c.791-1G>A rs267607795
NM_000249.3(MLH1):c.793C>A (p.Arg265Ser) rs63751194
NM_000249.3(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_000249.3(MLH1):c.827_831del (p.Ile276fs) rs1553646669
NM_000249.3(MLH1):c.883A>C (p.Ser295Arg) rs63751598
NM_000249.3(MLH1):c.883A>G (p.Ser295Gly) rs63751598
NM_000249.3(MLH1):c.898_908del (p.Pro300fs) rs1553647928
NM_000249.3(MLH1):c.963_1014dup (p.Ser339fs) rs1553648058
NM_000251.2(MSH2):c.1018dup (p.Arg340fs) rs63750703
NM_000251.2(MSH2):c.1067T>G (p.Ile356Arg) rs753075410
NM_000251.2(MSH2):c.1077_1276del200 (p.Leu360Lysfs) rs1553356518
NM_000251.2(MSH2):c.1165C>T (p.Arg389Ter) rs587779075
NM_000251.2(MSH2):c.1189C>T (p.Gln397Ter) rs63750611
NM_000251.2(MSH2):c.1215C>G (p.Tyr405Ter) rs63751271
NM_000251.2(MSH2):c.1216C>T (p.Arg406Ter) rs63751108
NM_000251.2(MSH2):c.1222dup (p.Tyr408fs) rs63751142
NM_000251.2(MSH2):c.1226_1227del (p.Gln409fs) rs63750086
NM_000251.2(MSH2):c.1276+1G>A rs267607950
NM_000251.2(MSH2):c.1285C>T (p.Gln429Ter) rs63751693
NM_000251.2(MSH2):c.1373T>G (p.Leu458Ter) rs63750521
NM_000251.2(MSH2):c.1386+1G>A rs267607957
NM_000251.2(MSH2):c.142G>T (p.Glu48Ter) rs63750615
NM_000251.2(MSH2):c.1444dup (p.Arg482fs) rs63750068
NM_000251.2(MSH2):c.1457_1460delATGA rs1114167806
NM_000251.2(MSH2):c.1534_1543del (p.Lys512fs) rs1553366522
NM_000251.2(MSH2):c.1557del (p.Phe519fs) rs1553366554
NM_000251.2(MSH2):c.1560dup (p.Tyr521fs) rs1553366561
NM_000251.2(MSH2):c.163del (p.Arg55fs) rs63750337
NM_000251.2(MSH2):c.1656del (p.Asn553fs) rs1114167817
NM_000251.2(MSH2):c.1661+5G>C rs267607972
NM_000251.2(MSH2):c.1662-?_1759+?del
NM_000251.2(MSH2):c.1681_1682dup (p.Glu562fs) rs1553367608
NM_000251.2(MSH2):c.1705_1706del (p.Glu569fs) rs63750393
NM_000251.2(MSH2):c.1760-?_2458+?del
NM_000251.2(MSH2):c.1786_1788del (p.Asn596del) rs63749831
NM_000251.2(MSH2):c.1805T>C (p.Leu602Pro) rs1553368561
NM_000251.2(MSH2):c.1882G>T (p.Gly628Ter) rs371776176
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.1937A>G (p.Asp646Gly) rs41295290
NM_000251.2(MSH2):c.1984C>T (p.Gln662Ter) rs786204321
NM_000251.2(MSH2):c.2006-?_2210+?del
NM_000251.2(MSH2):c.2038C>T (p.Arg680Ter) rs63749932
NM_000251.2(MSH2):c.2063T>G (p.Met688Arg) rs63749993
NM_000251.2(MSH2):c.2075G>A (p.Gly692Glu) rs63751432
NM_000251.2(MSH2):c.2082del (p.Phe694fs) rs63750689
NM_000251.2(MSH2):c.2100del (p.Glu701fs) rs1553369113
NM_000251.2(MSH2):c.211+1G>T rs1114167883
NM_000251.2(MSH2):c.211G>C (p.Gly71Arg) rs587782659
NM_000251.2(MSH2):c.2131C>T (p.Arg711Ter) rs63750636
NM_000251.2(MSH2):c.2135dup (p.Gly713fs) rs63751453
NM_000251.2(MSH2):c.2145del (p.Asp716fs) rs1553369164
NM_000251.2(MSH2):c.2148del (p.Asp716fs) rs1553369165
NM_000251.2(MSH2):c.2152C>T (p.Gln718Ter) rs587779139
NM_000251.2(MSH2):c.2178G>C (p.Met726Ile) rs587782396
NM_000251.2(MSH2):c.2182_2199del (p.Glu728_Ala733del) rs1553369194
NM_000251.2(MSH2):c.2211-2A>G rs267608001
NM_000251.2(MSH2):c.2211-2A>T rs267608001
NM_000251.2(MSH2):c.2228C>G (p.Ser743Ter) rs63751155
NM_000251.2(MSH2):c.229_230delAG rs63749848
NM_000251.2(MSH2):c.2425G>T (p.Glu809Ter) rs202145681
NM_000251.2(MSH2):c.2472_2473del (p.Ser825fs) rs1553370310
NM_000251.2(MSH2):c.2484dup (p.His829fs) rs1553370324
NM_000251.2(MSH2):c.2575G>T (p.Glu859Ter) rs63749830
NM_000251.2(MSH2):c.2633_2634delAG rs63751618
NM_000251.2(MSH2):c.2656G>T (p.Glu886Ter) rs1230083633
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.387_388delTC rs63750924
NM_000251.2(MSH2):c.475dup (p.Arg159fs) rs786204319
NM_000251.2(MSH2):c.518T>C (p.Leu173Pro) rs63750070
NM_000251.2(MSH2):c.560T>C (p.Leu187Pro) rs63751444
NM_000251.2(MSH2):c.571_573delCTC rs587779165
NM_000251.2(MSH2):c.611_612GA[5] (p.Thr206fs) rs1553350946
NM_000251.2(MSH2):c.645+1G>A rs267607689
NM_000251.2(MSH2):c.687_688insT (p.Ala230fs) rs63750364
NM_000251.2(MSH2):c.687del (p.Ala230fs) rs63749897
NM_000251.2(MSH2):c.687dup (p.Ala230fs) rs63749897
NM_000251.2(MSH2):c.942+3A>T rs193922376
NM_000251.2(MSH2):c.943-2A>G rs587779198
NM_000251.2(MSH2):c.943-?_1076+?del
NM_000251.2(MSH2):c.998G>A (p.Cys333Tyr) rs63750828
NM_000251.2:c.1-?_1076+?dup
NM_000251.2:c.1760-?_2802+?del
NM_000251.2:c.1760-?_2805+?del
NM_000251.2:c.904-?_1386+?del
NM_000535.5:c.2276-?_2589+?del
NM_000535.7(PMS2):c.-13G>C rs747488315
NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter) rs587778617
NM_000535.7(PMS2):c.134A>C (p.Asn45Thr) rs1554306353
NM_000535.7(PMS2):c.137G>A (p.Ser46Asn) rs121434629
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_000535.7(PMS2):c.1630G>A (p.Asp544Asn) rs876660139
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_000535.7(PMS2):c.1A>T (p.Met1Leu) rs587779333
NM_000535.7(PMS2):c.2117del (p.Lys706fs) rs587782704
NM_000535.7(PMS2):c.2184_2185TC[1] (p.Leu729fs) rs587779335
NM_000535.7(PMS2):c.2184del (p.Leu729fs) rs1554294505
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp) rs587779337
NM_000535.7(PMS2):c.23+21_23+28del rs1554308880
NM_000535.7(PMS2):c.23+7G>T rs878854047
NM_000535.7(PMS2):c.2446_2589del (p.Val816_Ter863del) rs1554292684
NM_000535.7(PMS2):c.2458dup (p.Thr820fs) rs1554292880
NM_000535.7(PMS2):c.251-11C>G rs761795058
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123
NM_000535.7(PMS2):c.538-1G>C rs988423880
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu) rs374704824
NM_000535.7(PMS2):c.736C>A (p.Pro246Thr) rs765668173
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer) rs267608150
NM_001167617.2(MLH1):c.-447del rs63751396
NM_001167617.2(MLH1):c.-450del rs63750822
NM_001167617.2(MLH1):c.-46A>G rs587778998
NM_001167617.2(MLH1):c.1031_1052delinsATTTT (p.Ala344fs) rs587778903
NM_001167617.2(MLH1):c.1195dup (p.Arg399fs) rs63750855
NM_001167617.2(MLH1):c.1958_1959del (p.Lys653fs) rs267607901
NM_001167617.2(MLH1):c.896del (p.Leu299fs) rs63750749
NM_001167617.2(MLH1):c.942_943CA[1] (p.Thr315fs) rs1553651073
NM_001167618.2(MLH1):c.-120del rs1553644155
NM_001167618.2(MLH1):c.-136del rs63751653
NM_001167618.2(MLH1):c.-232del rs1553642698
NM_001167618.2(MLH1):c.-378del rs63750906
NM_001258271.1(MLH1):c.1896+1240_1896+1244del rs1553664353
NM_001258271.1(MLH1):c.1896+1279_1896+1281del rs1553664506
NM_001258281.1(MSH2):c.-30-33_-30-5del rs63751482
NM_001258281.1(MSH2):c.1080_1188+1del rs1553361141
NM_001258281.1(MSH2):c.1352_1353CA[1] (p.Gln452fs) rs63749930
NM_001258281.1(MSH2):c.15_168+1del rs1553350052
NM_001258281.1(MSH2):c.2325_2326AG[1] (p.Glu776fs) rs587779148
NM_001258281.1(MSH2):c.448-1_450del rs1553351549
NM_001258281.1:c.595-?_2607+?del
NM_001281492.1(MSH6):c.1670_1671GT[1] (p.Val558fs) rs63750075
NM_001281492.1(MSH6):c.1760_1763del (p.Val587fs) rs267608058
NM_001281492.1(MSH6):c.1958_1959del (p.Leu652_Cys653insTer) rs267608065
NM_001281492.1(MSH6):c.2179_2182del (p.Asp727fs) rs587779243
NM_001281492.1(MSH6):c.2871del (p.Phe958fs) rs267608078
NM_001281492.1(MSH6):c.2871dup (p.Phe958fs) rs267608078
NM_001281492.1(MSH6):c.2942_2945dup (p.Asp982delinsGluTer) rs587782562
NM_001281492.1(MSH6):c.3124dup (p.Arg1042fs) rs63751327
NM_001281492.1(MSH6):c.3129_3132dup (p.Thr1045fs) rs267608101
NM_001281492.1(MSH6):c.3183dup (p.Val1062fs) rs1057517764
NM_001281492.1(MSH6):c.3549_3567dup (p.Ala1190delinsSerLysGlyThrTer) rs63750767
NM_001281492.1(MSH6):c.3569_3572del (p.Ala1190fs) rs267608120
NM_001281493.1(MSH6):c.-145_-144del rs267608072
NM_001281493.1(MSH6):c.-256dup rs63750955
NM_001354621.1(MLH1):c.-118_-117TG[1] rs1553647947
NM_001354621.1(MLH1):c.-13del rs63750677
NM_001354621.1(MLH1):c.-140+2408_-140+2410del rs1553645256
NM_001354621.1(MLH1):c.-75del rs1553648029
NM_001354630.1(MLH1):c.1732-885GAA[2] rs63751247
NM_001354630.1(MLH1):c.1732-899_1732-898del rs63750150
NM_002354.2(EPCAM):c.904-?_945+?del

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