ClinVar Miner

List of variants reported as likely benign for Lynch syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 48
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.1511-9A>T rs12998837 0.09123
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser) rs17217772 0.02317
NM_000534.5(PMS1):c.1643A>G (p.Lys548Arg) rs61736576 0.00477
NM_000251.3(MSH2):c.1666T>C (p.Leu556=) rs61756466 0.00471
NM_002354.3(EPCAM):c.491+19A>T rs114475602 0.00306
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val) rs55907433 0.00297
NM_000179.3(MSH6):c.3439-16C>T rs192614006 0.00237
NM_000251.3(MSH2):c.23C>T (p.Thr8Met) rs17217716 0.00184
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn) rs41294980 0.00087
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp) rs63750447 0.00077
NM_003242.6(TGFBR2):c.1458C>T (p.Ser486=) rs139881155 0.00075
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005 0.00067
NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys) rs63750897 0.00059
NM_000251.3(MSH2):c.1680T>C (p.Asn560=) rs200056411 0.00043
NM_003242.6(TGFBR2):c.571G>A (p.Val191Ile) rs56105708 0.00039
NM_001040108.2(MLH3):c.4011+15T>G rs139032600 0.00031
NM_000251.3(MSH2):c.1661+11C>T rs377154011 0.00030
NM_003242.6(TGFBR2):c.263+17A>C rs34771516 0.00029
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser) rs17420802 0.00025
NM_000249.4(MLH1):c.307-19A>G rs121909451 0.00022
NM_000251.3(MSH2):c.1255C>A (p.Gln419Lys) rs63750006 0.00019
NM_000251.3(MSH2):c.138C>G (p.His46Gln) rs33946261 0.00019
NM_000249.4(MLH1):c.2101C>A (p.Gln701Lys) rs63750114 0.00016
NM_000249.4(MLH1):c.1820T>A (p.Leu607His) rs41295284 0.00015
NM_000535.7(PMS2):c.1467G>A (p.Glu489=) rs542522853 0.00015
NM_000251.3(MSH2):c.505A>G (p.Ile169Val) rs63750716 0.00013
NM_003242.6(TGFBR2):c.94+16238C>T rs149757320 0.00013
NM_000179.3(MSH6):c.3172+20T>C rs3136335 0.00009
NM_000179.3(MSH6):c.660A>C (p.Glu220Asp) rs1800938 0.00009
NM_001040108.2(MLH3):c.873T>G (p.Asn291Lys) rs767413852 0.00009
NM_000251.3(MSH2):c.1690A>G (p.Thr564Ala) rs55778204 0.00008
NM_000535.7(PMS2):c.1280G>A (p.Arg427His) rs112902065 0.00007
NM_000249.4(MLH1):c.438A>G (p.Gln146=) rs377279035 0.00005
NM_000179.3(MSH6):c.3557-17A>T rs542542093 0.00004
NM_000249.4(MLH1):c.2252A>G (p.Lys751Arg) rs140195825 0.00004
NM_002354.3(EPCAM):c.342C>T (p.Ser114=) rs200495968 0.00004
NM_000179.3(MSH6):c.3801+14G>T rs755626529 0.00002
NM_003242.6(TGFBR2):c.927G>A (p.Thr309=) rs756625146 0.00002
NM_003242.6(TGFBR2):c.1208G>A (p.Arg403His) rs143095746 0.00001
NM_000179.3(MSH6):c.3228C>T (p.Arg1076=) rs786203698
NM_000179.3(MSH6):c.3557-4dup rs267608102
NM_000179.3(MSH6):c.4001+2TAAC[2] rs267608132
NM_000179.3(MSH6):c.4001+2TAAC[4] rs267608132
NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala) rs35502531
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr) rs63750449
NM_000249.4(MLH1):c.1990-17G>C rs1057521535
NM_000251.3(MSH2):c.273TCT[2] (p.Leu94del) rs267607919
NM_000535.7(PMS2):c.2043G>A (p.Gln681=) rs876658953

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.