ClinVar Miner

List of variants reported as pathogenic for Lynch syndrome by Center for Human Genetics, Inc

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP
NM_000179.2(MSH6):c.3743_3744insT (p.Tyr1249fs) rs786201084
NM_000249.3(MLH1):c.1381A>T (p.Lys461Ter) rs63750540
NM_000249.3(MLH1):c.589C>T (p.Gln197Ter) rs1553644123
NM_000251.2(MSH2):c.289C>T (p.Gln97Ter) rs63750970
NM_001167617.2(MLH1):c.1206_1208del (p.Ile403del) rs587778920
NM_001281492.1(MSH6):c.3569_3572del (p.Ala1190fs) rs267608120

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.