ClinVar Miner

List of variants studied for Lynch syndrome by University of Washington Department of Laboratory Medicine,University of Washington

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 256
Download table as spreadsheet
HGVS dbSNP
NC_000002.11:g.(?_47369148)_(47369581_?)dup
NM_000179.2(MSH6):c.1021T>G (p.Ser341Ala) rs1558660119
NM_000179.2(MSH6):c.1046A>G (p.Gln349Arg) rs869312797
NM_000179.2(MSH6):c.1081C>T (p.Arg361Cys) rs587782651
NM_000179.2(MSH6):c.1082G>A (p.Arg361His) rs63750440
NM_000179.2(MSH6):c.1093T>C (p.Trp365Arg) rs752628520
NM_000179.2(MSH6):c.10C>T (p.Gln4Ter) rs786201042
NM_000179.2(MSH6):c.1106C>T (p.Thr369Ile) rs375974046
NM_000179.2(MSH6):c.1109T>C (p.Leu370Ser) rs587779204
NM_000179.2(MSH6):c.1130_1134AGAGA[1] (p.Arg378_Arg379insTer) rs267608077
NM_000179.2(MSH6):c.1168G>A (p.Asp390Asn) rs147737737
NM_000179.2(MSH6):c.1184C>T (p.Thr395Ile) rs767658494
NM_000179.2(MSH6):c.1207C>A (p.Leu403Ile) rs876659223
NM_000179.2(MSH6):c.1290G>A (p.Gly430=) rs1558661242
NM_000179.2(MSH6):c.133G>T (p.Gly45Cys) rs978968846
NM_000179.2(MSH6):c.1352del (p.Phe451fs) rs869312769
NM_000179.2(MSH6):c.1364A>C (p.Asn455Thr) rs200938360
NM_000179.2(MSH6):c.1400G>A (p.Gly467Asp) rs1558661547
NM_000179.2(MSH6):c.1401C>T (p.Gly467=) rs1558661556
NM_000179.2(MSH6):c.1402C>T (p.Arg468Cys) rs369456858
NM_000179.2(MSH6):c.1483C>T (p.Arg495Ter) rs587779212
NM_000179.2(MSH6):c.1599G>C (p.Glu533Asp) rs373726731
NM_000179.2(MSH6):c.1615_1617CTT[1] (p.Leu540del) rs1064793600
NM_000179.2(MSH6):c.1675T>C (p.Cys559Arg) rs1558662565
NM_000179.2(MSH6):c.1754T>C (p.Leu585Pro) rs587779220
NM_000179.2(MSH6):c.1809G>A (p.Lys603=) rs876660790
NM_000179.2(MSH6):c.1822A>G (p.Ile608Val) rs201613780
NM_000179.2(MSH6):c.1847C>G (p.Ser616Cys) rs772363120
NM_000179.2(MSH6):c.1904G>A (p.Arg635Lys) rs1558663439
NM_000179.2(MSH6):c.1915G>A (p.Glu639Lys) rs143517321
NM_000179.2(MSH6):c.2079dup (p.Cys694fs) rs267608083
NM_000179.2(MSH6):c.2150_2153del (p.Val717fs) rs267608058
NM_000179.2(MSH6):c.2161A>C (p.Arg721=) rs537604099
NM_000179.2(MSH6):c.2195G>A (p.Arg732Gln) rs749746725
NM_000179.2(MSH6):c.2210C>T (p.Ala737Val) rs869312798
NM_000179.2(MSH6):c.2287G>A (p.Asp763Asn) rs1558664969
NM_000179.2(MSH6):c.2315G>A (p.Arg772Gln) rs63750725
NM_000179.2(MSH6):c.2342C>T (p.Pro781Leu) rs1553413710
NM_000179.2(MSH6):c.2398G>C (p.Val800Leu) rs61748083
NM_000179.2(MSH6):c.261-14C>T rs369366445
NM_000179.2(MSH6):c.2636C>A (p.Ala879Asp) rs1558666061
NM_000179.2(MSH6):c.2660T>C (p.Leu887Pro) rs1558666142
NM_000179.2(MSH6):c.2701C>A (p.Arg901Ser) rs772514245
NM_000179.2(MSH6):c.2743G>A (p.Ala915Thr) rs1558666565
NM_000179.2(MSH6):c.2743G>T (p.Ala915Ser) rs1558666565
NM_000179.2(MSH6):c.2846_2847AG[1] (p.Ser950fs) rs869312770
NM_000179.2(MSH6):c.2876G>A (p.Arg959His) rs757653982
NM_000179.2(MSH6):c.3010A>G (p.Lys1004Glu) rs1558667702
NM_000179.2(MSH6):c.3029C>T (p.Thr1010Ile) rs768925694
NM_000179.2(MSH6):c.3067G>T (p.Glu1023Ter) rs267608059
NM_000179.2(MSH6):c.3126A>C (p.Lys1042Asn) rs1558668218
NM_000179.2(MSH6):c.3139T>C (p.Trp1047Arg) rs1114167753
NM_000179.2(MSH6):c.3185G>A (p.Cys1062Tyr) rs1558386797
NM_000179.2(MSH6):c.3203G>A (p.Arg1068Gln) rs398123230
NM_000179.2(MSH6):c.3214G>A (p.Gly1072Ser) rs1558386938
NM_000179.2(MSH6):c.3217C>T (p.Pro1073Ser) rs142254875
NM_000179.2(MSH6):c.3227G>A (p.Arg1076His) rs779617676
NM_000179.2(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000179.2(MSH6):c.3283C>T (p.Arg1095Cys) rs376243329
NM_000179.2(MSH6):c.3300G>A (p.Thr1100=) rs540252208
NM_000179.2(MSH6):c.3426G>A (p.Thr1142=) rs747771350
NM_000179.2(MSH6):c.3431T>G (p.Met1144Arg) rs864622607
NM_000179.2(MSH6):c.3438+2T>C rs1033749344
NM_000179.2(MSH6):c.3442G>A (p.Gly1148Ser) rs63750257
NM_000179.2(MSH6):c.3470G>A (p.Gly1157Asp) rs752212361
NM_000179.2(MSH6):c.3508A>C (p.Ile1170Leu) rs1558389423
NM_000179.2(MSH6):c.3610G>A (p.Ala1204Thr) rs869312799
NM_000179.2(MSH6):c.3722G>A (p.Cys1241Tyr) rs1021631442
NM_000179.2(MSH6):c.3801+2T>C rs1558392617
NM_000179.2(MSH6):c.3801+5G>A rs201080919
NM_000179.2(MSH6):c.3939_3957dup (p.Ala1320delinsSerLysGlyThrTer) rs63750767
NM_000179.2(MSH6):c.3963A>G (p.Arg1321=) rs267608125
NM_000179.2(MSH6):c.3964G>A (p.Glu1322Lys) rs1553333707
NM_000179.2(MSH6):c.4018A>G (p.Ser1340Gly) rs1558395603
NM_000179.2(MSH6):c.44C>T (p.Pro15Leu) rs869312800
NM_000179.2(MSH6):c.457G>T (p.Gly153Cys) rs1060502885
NM_000179.2(MSH6):c.475G>A (p.Ala159Thr) rs1553411396
NM_000179.2(MSH6):c.511G>C (p.Glu171Gln) rs1558656518
NM_000179.2(MSH6):c.542A>C (p.Glu181Ala) rs1558656620
NM_000179.2(MSH6):c.556G>T (p.Asp186Tyr) rs1212607928
NM_000179.2(MSH6):c.73G>T (p.Ala25Ser) rs267608026
NM_000179.2(MSH6):c.884A>G (p.Lys295Arg) rs267608051
NM_000179.2(MSH6):c.884A>T (p.Lys295Ile) rs267608051
NM_000179.2(MSH6):c.893G>A (p.Arg298Gln) rs765237563
NM_000179.2(MSH6):c.911T>C (p.Val304Ala) rs1481054050
NM_000179.2(MSH6):c.971A>G (p.Lys324Arg) rs1558659961
NM_000249.3(MLH1):c.100G>A (p.Glu34Lys) rs1559500884
NM_000249.3(MLH1):c.1039-2A>G rs267607815
NM_000249.3(MLH1):c.109G>A (p.Glu37Lys) rs63751012
NM_000249.3(MLH1):c.109G>C (p.Glu37Gln) rs63751012
NM_000249.3(MLH1):c.1103C>T (p.Ser368Leu) rs201673334
NM_000249.3(MLH1):c.113A>C (p.Asn38Thr) rs587778888
NM_000249.3(MLH1):c.1153C>T (p.Arg385Cys) rs63750760
NM_000249.3(MLH1):c.1165C>T (p.Arg389Trp) rs61751644
NM_000249.3(MLH1):c.1267A>G (p.Arg423Gly) rs1392665848
NM_000249.3(MLH1):c.131C>A (p.Ser44Tyr) rs63751109
NM_000249.3(MLH1):c.1379A>C (p.Glu460Ala) rs202038499
NM_000249.3(MLH1):c.139A>G (p.Ile47Val) rs1559505924
NM_000249.3(MLH1):c.1420C>T (p.Arg474Trp) rs147939838
NM_000249.3(MLH1):c.1474G>A (p.Ala492Thr) rs63751145
NM_000249.3(MLH1):c.1558+4C>T rs531873434
NM_000249.3(MLH1):c.1558+5G>A rs199935667
NM_000249.3(MLH1):c.1668-1G>A rs267607845
NM_000249.3(MLH1):c.1668-5T>G rs1559578408
NM_000249.3(MLH1):c.1668-?_2103+?dup
NM_000249.3(MLH1):c.1721T>C (p.Leu574Pro) rs63751608
NM_000249.3(MLH1):c.1731+1G>C rs267607853
NM_000249.3(MLH1):c.1731+2T>C rs267607856
NM_000249.3(MLH1):c.1732-?_(*193_?)del
NM_000249.3(MLH1):c.176T>A (p.Ile59Asn) rs1559506199
NM_000249.3(MLH1):c.1889T>A (p.Ile630Asn) rs1559588836
NM_000249.3(MLH1):c.1897-7C>T rs373078652
NM_000249.3(MLH1):c.1925T>A (p.Leu642Gln) rs1559590916
NM_000249.3(MLH1):c.1960C>T (p.Pro654Ser) rs1559591314
NM_000249.3(MLH1):c.1979T>C (p.Leu660Pro) rs1559591546
NM_000249.3(MLH1):c.1989+5G>C rs267607878
NM_000249.3(MLH1):c.1997G>C (p.Trp666Ser) rs886039424
NM_000249.3(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000249.3(MLH1):c.2040C>T (p.Cys680=) rs63749867
NM_000249.3(MLH1):c.2054C>A (p.Ser685Tyr) rs1064796101
NM_000249.3(MLH1):c.207+5G>C rs587781518
NM_000249.3(MLH1):c.208-3C>G rs267607720
NM_000249.3(MLH1):c.2104-1G>A rs587778978
NM_000249.3(MLH1):c.2104_2105delAG (p.Ser702Terfs) rs63751651
NM_000249.3(MLH1):c.2174G>A (p.Arg725His) rs566928243
NM_000249.3(MLH1):c.2213G>A (p.Gly738Glu) rs148317871
NM_000249.3(MLH1):c.25_26delinsTA (p.Arg9Ter) rs869312767
NM_000249.3(MLH1):c.299G>A (p.Arg100Gln) rs63750266
NM_000249.3(MLH1):c.350C>T (p.Thr117Met) rs63750781
NM_000249.3(MLH1):c.380+1G>T rs267607745
NM_000249.3(MLH1):c.3G>T (p.Met1Ile) rs72481822
NM_000249.3(MLH1):c.415C>G (p.Pro139Ala) rs779562531
NM_000249.3(MLH1):c.453+2T>G rs267607751
NM_000249.3(MLH1):c.453G>A (p.Thr151=) rs369521379
NM_000249.3(MLH1):c.482C>T (p.Thr161Met) rs763992299
NM_000249.3(MLH1):c.545G>C (p.Arg182Thr) rs587779021
NM_000249.3(MLH1):c.589-2A>C rs267607767
NM_000249.3(MLH1):c.678-1G>A rs267607784
NM_000249.3(MLH1):c.716C>T (p.Ala239Val) rs1559534371
NM_000249.3(MLH1):c.731G>T (p.Gly244Val) rs63750303
NM_000249.3(MLH1):c.790+3A>T rs267607792
NM_000249.3(MLH1):c.790+4A>T rs267607786
NM_000249.3(MLH1):c.790+5G>A rs267607771
NM_000249.3(MLH1):c.793C>A (p.Arg265Ser) rs63751194
NM_000249.3(MLH1):c.793_794delinsGT (p.Arg265Val) rs1559539068
NM_000249.3(MLH1):c.835G>C (p.Val279Leu) rs1559539382
NM_000249.3(MLH1):c.836T>G (p.Val279Gly) rs1553646683
NM_000249.3(MLH1):c.945C>G (p.His315Gln) rs587779959
NM_000249.3(MLH1):c.955G>A (p.Glu319Lys) rs63750796
NM_000251.2(MSH2):c.(?_-68)_1076+?del
NM_000251.2(MSH2):c.-12G>A rs1558450937
NM_000251.2(MSH2):c.1033T>G (p.Trp345Gly) rs1558466616
NM_000251.2(MSH2):c.1045C>G (p.Pro349Ala) rs267607939
NM_000251.2(MSH2):c.1071G>A (p.Glu357=) rs587781617
NM_000251.2(MSH2):c.1076+1G>T rs267607940
NM_000251.2(MSH2):c.1077-1G>T rs267607944
NM_000251.2(MSH2):c.1191A>T (p.Gln397His) rs768694189
NM_000251.2(MSH2):c.1201_1202dup (p.Leu401fs) rs869312768
NM_000251.2(MSH2):c.1226_1227del (p.Gln409fs) rs63750086
NM_000251.2(MSH2):c.1277-1G>A rs267607948
NM_000251.2(MSH2):c.1277-2A>T rs267607949
NM_000251.2(MSH2):c.1277-?_1661+?del
NM_000251.2(MSH2):c.12G>T (p.Gln4His) rs878853800
NM_000251.2(MSH2):c.1347G>C (p.Lys449Asn) rs587781331
NM_000251.2(MSH2):c.1357A>C (p.Met453Leu) rs1558493602
NM_000251.2(MSH2):c.138C>G (p.His46Gln) rs33946261
NM_000251.2(MSH2):c.1429A>C (p.Asn477His) rs587781346
NM_000251.2(MSH2):c.1461C>G (p.Asp487Glu) rs35107951
NM_000251.2(MSH2):c.14C>A (p.Pro5Gln) rs56170584
NM_000251.2(MSH2):c.1511-1G>A rs267607964
NM_000251.2(MSH2):c.1571G>C (p.Arg524Pro) rs63751207
NM_000251.2(MSH2):c.1600C>T (p.Arg534Cys) rs63750029
NM_000251.2(MSH2):c.1659C>T (p.Asn553=) rs869312796
NM_000251.2(MSH2):c.1661+1G>T rs267607969
NM_000251.2(MSH2):c.1759+1G>T
NM_000251.2(MSH2):c.1760-1G>A rs587779110
NM_000251.2(MSH2):c.1796T>C (p.Leu599Ser) rs747504492
NM_000251.2(MSH2):c.1832T>A (p.Val611Glu) rs1553368590
NM_000251.2(MSH2):c.1850T>C (p.Val617Ala) rs1260310695
NM_000251.2(MSH2):c.1862G>A (p.Arg621Gln) rs759263820
NM_000251.2(MSH2):c.1963G>A (p.Val655Ile) rs549467183
NM_000251.2(MSH2):c.2006-1G>T rs267607988
NM_000251.2(MSH2):c.2006G>A (p.Gly669Asp) rs63751640
NM_000251.2(MSH2):c.2017G>A (p.Gly673Arg) rs1558519543
NM_000251.2(MSH2):c.2074G>T (p.Gly692Trp) rs63750232
NM_000251.2(MSH2):c.2075G>A (p.Gly692Glu) rs63751432
NM_000251.2(MSH2):c.2077T>C (p.Cys693Arg) rs1558519728
NM_000251.2(MSH2):c.2086C>G (p.Pro696Ala) rs546201898
NM_000251.2(MSH2):c.2095T>C (p.Ser699Pro) rs1428704795
NM_000251.2(MSH2):c.2132G>A (p.Arg711Gln) rs138465383
NM_000251.2(MSH2):c.2211-1G>T rs267607979
NM_000251.2(MSH2):c.2285T>C (p.Leu762Ser) rs1558521698
NM_000251.2(MSH2):c.2294C>T (p.Ala765Val) rs1261458082
NM_000251.2(MSH2):c.2317A>G (p.Lys773Glu) rs1558521813
NM_000251.2(MSH2):c.2355T>C (p.His785=) rs1114167840
NM_000251.2(MSH2):c.2360T>G (p.Leu787Arg) rs1558521929
NM_000251.2(MSH2):c.2458+2T>C rs1278858560
NM_000251.2(MSH2):c.2459-12A>G rs267608012
NM_000251.2(MSH2):c.2459-1G>A rs1060501991
NM_000251.2(MSH2):c.2479G>C (p.Gly827Arg) rs63750478
NM_000251.2(MSH2):c.2516A>G (p.His839Arg) rs63750027
NM_000251.2(MSH2):c.2576_2584del (p.Glu859_Gln861del) rs587781278
NM_000251.2(MSH2):c.2634+1G>T rs267608019
NM_000251.2(MSH2):c.2634+2T>C rs876660546
NM_000251.2(MSH2):c.271G>C (p.Asp91His) rs1558457163
NM_000251.2(MSH2):c.2754G>T (p.Lys918Asn) rs1553370893
NM_000251.2(MSH2):c.301_306del (p.Glu101_Val102del) rs587779157
NM_000251.2(MSH2):c.366+1G>A rs267607924
NM_000251.2(MSH2):c.366+2T>C rs1558457533
NM_000251.2(MSH2):c.432C>T (p.Ser144=) rs1558459072
NM_000251.2(MSH2):c.480G>T (p.Gln160His) rs1558459273
NM_000251.2(MSH2):c.4G>A (p.Ala2Thr) rs63750466
NM_000251.2(MSH2):c.518T>C (p.Leu173Pro) rs63750070
NM_000251.2(MSH2):c.53G>A (p.Gly18Asp) rs1200418561
NM_000251.2(MSH2):c.763A>G (p.Ser255Gly) rs761529282
NM_000251.2(MSH2):c.793-2A>C rs267607933
NM_000251.2(MSH2):c.793-?_1276+?dup
NM_000251.2(MSH2):c.896A>G (p.Tyr299Cys) rs1558464315
NM_000251.2(MSH2):c.925G>C (p.Ala309Pro) rs781257094
NM_000251.2(MSH2):c.929T>G (p.Leu310Arg) rs63750640
NM_000535.6(PMS2):c.736_741delCCCCCTins11 (p.?)
NM_000535.6(PMS2):c.904-?_1144+?del
NM_000535.7(PMS2):c.1149C>G (p.Asn383Lys) rs1562637166
NM_000535.7(PMS2):c.122A>G (p.Glu41Gly) rs1562701448
NM_000535.7(PMS2):c.1322A>G (p.Glu441Gly) rs1562634610
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_000535.7(PMS2):c.1398C>T (p.Gly466=) rs752666485
NM_000535.7(PMS2):c.1437C>G (p.His479Gln) rs63750685
NM_000535.7(PMS2):c.1500del (p.Val501fs) rs759151952
NM_000535.7(PMS2):c.1533G>T (p.Thr511=) rs542520309
NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr) rs63751132
NM_000535.7(PMS2):c.1703C>G (p.Pro568Arg) rs869312801
NM_000535.7(PMS2):c.195T>C (p.Leu65=) rs780080040
NM_000535.7(PMS2):c.2075A>G (p.Asn692Ser) rs1562615666
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys) rs267608161
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325
NM_000535.7(PMS2):c.2182A>G (p.Thr728Ala) rs141893001
NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs) rs63750695
NM_000535.7(PMS2):c.220G>A (p.Gly74Arg) rs1554304979
NM_000535.7(PMS2):c.2240G>C (p.Arg747Thr) rs587782671
NM_000535.7(PMS2):c.250+8G>A rs1057520511
NM_000535.7(PMS2):c.251-2A>T rs587779340
NM_000535.7(PMS2):c.299A>G (p.Gln100Arg) rs747771951
NM_000535.7(PMS2):c.30A>G (p.Glu10=) rs876660608
NM_000535.7(PMS2):c.353G>T (p.Ser118Ile) rs1394474494
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr) rs114090343
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu) rs116373169
NM_000535.7(PMS2):c.475G>C (p.Val159Leu) rs142416537
NM_000535.7(PMS2):c.506G>A (p.Arg169His) rs730881917
NM_000535.7(PMS2):c.595C>T (p.Arg199Cys) rs372297364
NM_000535.7(PMS2):c.727G>T (p.Val243Phe) rs867655834
NM_000535.7(PMS2):c.804-1G>A rs1562664845
NM_000535.7(PMS2):c.890G>C (p.Cys297Ser) rs869312802
NM_000535.7(PMS2):c.944G>A (p.Arg315Gln) rs116314131
NM_000535.7(PMS2):c.993C>T (p.Cys331=) rs186577215
NM_000535.7(PMS2):c.994G>A (p.Val332Ile) rs1236095389

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