ClinVar Miner

List of variants studied for Lynch syndrome by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 143
Download table as spreadsheet
HGVS dbSNP
NM_000179.2(MSH6):c.104C>T (p.Ala35Val) rs776547943
NM_000179.2(MSH6):c.1063G>A (p.Gly355Ser) rs587778531
NM_000179.2(MSH6):c.10C>T (p.Gln4Ter) rs786201042
NM_000179.2(MSH6):c.1270G>A (p.Val424Ile) rs768299607
NM_000179.2(MSH6):c.136G>A (p.Gly46Arg) rs863224616
NM_000179.2(MSH6):c.136G>C (p.Gly46Arg) rs863224616
NM_000179.2(MSH6):c.1633A>G (p.Lys545Glu) rs1064793403
NM_000179.2(MSH6):c.1814C>G (p.Thr605Ser) rs587781616
NM_000179.2(MSH6):c.184C>T (p.Arg62Cys) rs876659508
NM_000179.2(MSH6):c.187T>C (p.Ser63Pro) rs763702846
NM_000179.2(MSH6):c.2183A>G (p.Lys728Arg) rs35552856
NM_000179.2(MSH6):c.2300C>G (p.Thr767Ser) rs587781462
NM_000179.2(MSH6):c.2419G>A (p.Glu807Lys) rs587779923
NM_000179.2(MSH6):c.2515G>C (p.Asp839His) rs1553413868
NM_000179.2(MSH6):c.2561A>T (p.Lys854Met) rs34374438
NM_000179.2(MSH6):c.2731C>T (p.Arg911Ter) rs63751017
NM_000179.2(MSH6):c.2959A>G (p.Thr987Ala) rs746631156
NM_000179.2(MSH6):c.3014G>A (p.Arg1005Gln) rs587782324
NM_000179.2(MSH6):c.3103C>T (p.Arg1035Ter) rs63749999
NM_000179.2(MSH6):c.3163G>A (p.Ala1055Thr) rs587779254
NM_000179.2(MSH6):c.3202C>T (p.Arg1068Ter) rs63749843
NM_000179.2(MSH6):c.3217C>T (p.Pro1073Ser) rs142254875
NM_000179.2(MSH6):c.3244C>T (p.Pro1082Ser) rs186240214
NM_000179.2(MSH6):c.3259C>T (p.Pro1087Ser) rs63750998
NM_000179.2(MSH6):c.3260C>G (p.Pro1087Arg) rs63750753
NM_000179.2(MSH6):c.3299C>T (p.Thr1100Met) rs63750442
NM_000179.2(MSH6):c.3312T>A (p.Phe1104Leu) rs747441460
NM_000179.2(MSH6):c.3557G>A (p.Gly1186Asp) rs587781690
NM_000179.2(MSH6):c.3605T>C (p.Met1202Thr) rs587779273
NM_000179.2(MSH6):c.3788G>A (p.Arg1263His) rs147852216
NM_000179.2(MSH6):c.3801+1G>T rs876660943
NM_000179.2(MSH6):c.383G>T (p.Arg128Leu) rs63750143
NM_000179.2(MSH6):c.3919A>C (p.Asn1307His) rs730881808
NM_000179.2(MSH6):c.4043A>C (p.Glu1348Ala) rs1449733937
NM_000179.2(MSH6):c.622A>G (p.Met208Val) rs369058374
NM_000179.2(MSH6):c.73G>T (p.Ala25Ser) rs267608026
NM_000249.3(MLH1):c.1013A>G (p.Asn338Ser) rs63751467
NM_000249.3(MLH1):c.1039-3C>G rs730881737
NM_000249.3(MLH1):c.1117G>A (p.Gly373Arg) rs766904735
NM_000249.3(MLH1):c.1118G>A (p.Gly373Glu) rs774878513
NM_000249.3(MLH1):c.1151T>A (p.Val384Asp) rs63750447
NM_000249.3(MLH1):c.1153C>T (p.Arg385Cys) rs63750760
NM_000249.3(MLH1):c.1154G>A (p.Arg385His) rs63750430
NM_000249.3(MLH1):c.1166G>A (p.Arg389Gln) rs63750361
NM_000249.3(MLH1):c.1243G>A (p.Asp415Asn) rs373767220
NM_000249.3(MLH1):c.1360G>C (p.Gly454Arg) rs63750527
NM_000249.3(MLH1):c.1381A>T (p.Lys461Ter) rs63750540
NM_000249.3(MLH1):c.1459C>T (p.Arg487Ter) rs63749795
NM_000249.3(MLH1):c.1487C>G (p.Pro496Arg) rs63750226
NM_000249.3(MLH1):c.1558+5G>A rs199935667
NM_000249.3(MLH1):c.1572G>T (p.Met524Ile) rs587779953
NM_000249.3(MLH1):c.1730C>T (p.Ser577Leu) rs56185292
NM_000249.3(MLH1):c.1775G>A (p.Ser592Asn) rs587782621
NM_000249.3(MLH1):c.1896+5G>A rs759870594
NM_000249.3(MLH1):c.1897-2A>G rs267607871
NM_000249.3(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.3(MLH1):c.2042C>T (p.Ala681Val) rs63750864
NM_000249.3(MLH1):c.2059C>T (p.Arg687Trp) rs63751275
NM_000249.3(MLH1):c.208-3C>G rs267607720
NM_000249.3(MLH1):c.2174G>A (p.Arg725His) rs566928243
NM_000249.3(MLH1):c.226G>A (p.Val76Ile) rs878853788
NM_000249.3(MLH1):c.299G>A (p.Arg100Gln) rs63750266
NM_000249.3(MLH1):c.306+5G>A rs267607735
NM_000249.3(MLH1):c.347C>A (p.Thr116Lys) rs63750465
NM_000249.3(MLH1):c.588+5G>A rs267607768
NM_000249.3(MLH1):c.65G>C (p.Gly22Ala) rs41295280
NM_000249.3(MLH1):c.821A>G (p.Lys274Arg) rs769958855
NM_000249.3(MLH1):c.844G>A (p.Ala282Thr) rs774689817
NM_000249.3(MLH1):c.885-1G>A rs1553647894
NM_000249.3(MLH1):c.91G>A (p.Ala31Thr) rs749671520
NM_000249.3(MLH1):c.91_92delinsTG (p.Ala31Cys) rs63749994
NM_000249.3(MLH1):c.955G>A (p.Glu319Lys) rs63750796
NM_000251.2(MSH2):c.1045C>G (p.Pro349Ala) rs267607939
NM_000251.2(MSH2):c.1076+1G>A rs267607940
NM_000251.2(MSH2):c.1147C>T (p.Arg383Ter) rs63749849
NM_000251.2(MSH2):c.1216C>T (p.Arg406Ter) rs63751108
NM_000251.2(MSH2):c.1217G>A (p.Arg406Gln) rs146567853
NM_000251.2(MSH2):c.1238A>C (p.Gln413Pro) rs587779962
NM_000251.2(MSH2):c.1254A>G (p.Ile418Met) rs751431238
NM_000251.2(MSH2):c.128A>G (p.Tyr43Cys) rs17217723
NM_000251.2(MSH2):c.138C>G (p.His46Gln) rs33946261
NM_000251.2(MSH2):c.1748A>G (p.Asn583Ser) rs201118107
NM_000251.2(MSH2):c.1787A>G (p.Asn596Ser) rs41295288
NM_000251.2(MSH2):c.1802A>G (p.Gln601Arg) rs779447213
NM_000251.2(MSH2):c.1825G>T (p.Ala609Ser) rs150980616
NM_000251.2(MSH2):c.1861C>T (p.Arg621Ter) rs63750508
NM_000251.2(MSH2):c.1906G>C (p.Ala636Pro) rs63750875
NM_000251.2(MSH2):c.1927G>A (p.Glu643Lys) rs374840361
NM_000251.2(MSH2):c.2009C>T (p.Pro670Leu) rs41294982
NM_000251.2(MSH2):c.2131C>T (p.Arg711Ter) rs63750636
NM_000251.2(MSH2):c.2516A>G (p.His839Arg) rs63750027
NM_000251.2(MSH2):c.376G>A (p.Gly126Ser) rs767371843
NM_000251.2(MSH2):c.383T>G (p.Leu128Arg) rs730881768
NM_000251.2(MSH2):c.435T>G (p.Ile145Met) rs63750124
NM_000251.2(MSH2):c.464T>C (p.Val155Ala) rs876658188
NM_000251.2(MSH2):c.868G>T (p.Glu290Ter) rs587779190
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_000535.7(PMS2):c.1552G>A (p.Glu518Lys) rs376142390
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys) rs63750649
NM_000535.7(PMS2):c.1559C>T (p.Ala520Val) rs63751300
NM_000535.7(PMS2):c.1576G>A (p.Asp526Asn) rs63750686
NM_000535.7(PMS2):c.1928A>G (p.Gln643Arg) rs760629688
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met) rs587780046
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser) rs17420802
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn) rs143340522
NM_000535.7(PMS2):c.2380C>T (p.Pro794Ser) rs773393960
NM_000535.7(PMS2):c.2395C>T (p.Arg799Trp) rs149202766
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu) rs587779338
NM_000535.7(PMS2):c.251-2A>T rs587779340
NM_000535.7(PMS2):c.2560G>A (p.Ala854Thr) rs574371474
NM_000535.7(PMS2):c.2T>A (p.Met1Lys) rs587780059
NM_000535.7(PMS2):c.328G>T (p.Ala110Ser) rs767775907
NM_000535.7(PMS2):c.475G>A (p.Val159Met) rs142416537
NM_000535.7(PMS2):c.487T>C (p.Phe163Leu) rs587780060
NM_000535.7(PMS2):c.494C>T (p.Thr165Ile) rs587781541
NM_000535.7(PMS2):c.506G>A (p.Arg169His) rs730881917
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr) rs201343342
NM_000535.7(PMS2):c.672G>C (p.Lys224Asn) rs748141595
NM_000535.7(PMS2):c.675A>C (p.Glu225Asp) rs876661233
NM_000535.7(PMS2):c.710A>T (p.Gln237Leu) rs587780061
NM_000535.7(PMS2):c.715C>T (p.Leu239Phe) rs1554301543
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer) rs267608150
NM_000535.7(PMS2):c.75G>T (p.Gln25His) rs1554306525
NM_000535.7(PMS2):c.766G>A (p.Gly256Ser) rs587782633
NM_000535.7(PMS2):c.823C>T (p.Gln275Ter) rs587780062
NM_000535.7(PMS2):c.825A>G (p.Gln275=) rs876659736
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly) rs116788608
NM_000535.7(PMS2):c.877A>G (p.Asn293Asp) rs530993704
NM_000535.7(PMS2):c.943C>T (p.Arg315Ter) rs200640585
NM_000535.7(PMS2):c.949C>A (p.Gln317Lys) rs143277125
NM_001024847.2(TGFBR2):c.166C>A (p.His56Asn) rs138262219
NM_001040108.1(MLH3):c.2911G>A (p.Val971Ile) rs41555714
NM_002354.2(EPCAM):c.179C>T (p.Ser60Leu) rs147494515
NM_002354.2(EPCAM):c.556-14A>G rs376155665
NM_002354.2(EPCAM):c.577A>G (p.Ile193Val) rs200676965
NM_003242.6(TGFBR2):c.1015C>T (p.Arg339Trp) rs761991787
NM_003242.6(TGFBR2):c.1126G>A (p.Val376Met) rs755967723
NM_003242.6(TGFBR2):c.1207C>T (p.Arg403Cys) rs886038960
NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter) rs104893819
NM_003242.6(TGFBR2):c.569G>A (p.Arg190His) rs780542125
NM_003242.6(TGFBR2):c.913C>T (p.Leu305Phe) rs1553630171
NM_003242.6(TGFBR2):c.938G>A (p.Arg313Gln)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.