ClinVar Miner

List of variants reported as uncertain significance for Lynch syndrome 1 by International Society for Gastrointestinal Hereditary Tumours (InSiGHT)

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000249.4(MLH1):c.453G>A (p.Thr151=) rs369521379 0.00006
NM_000251.3(MSH2):c.1963G>A (p.Val655Ile) rs549467183 0.00003
NM_000251.3(MSH2):c.991A>G (p.Asn331Asp) rs267607938 0.00003
NM_000249.4(MLH1):c.306G>A (p.Glu102=) rs63751665 0.00001
NM_000251.3(MSH2):c.2437A>G (p.Met813Val) rs63749841 0.00001
NM_000249.4(MLH1):c.116G>A (p.Cys39Tyr) rs63751701
NM_000249.4(MLH1):c.116G>T (p.Cys39Phe) rs63751701
NM_000249.4(MLH1):c.1676T>G (p.Leu559Arg) rs63750059
NM_000249.4(MLH1):c.1823C>A (p.Ala608Asp) rs267607864
NM_000249.4(MLH1):c.1988A>C (p.Glu663Ala) rs63751682
NM_000249.4(MLH1):c.2103G>A (p.Gln701=) rs63750603
NM_000249.4(MLH1):c.2265G>C (p.Arg755Ser) rs267607895
NM_000251.3(MSH2):c.1510G>C (p.Gly504Arg) rs63751600
NM_000251.3(MSH2):c.2005G>C (p.Gly669Arg) rs63751668
NM_000251.3(MSH2):c.792G>C (p.Gln264His) rs587779183

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.