ClinVar Miner

List of variants studied for Lynch syndrome by Department of Molecular Diagnostics,Institute of Oncology

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
NM_000179.2(MSH6):c.2092C>T (p.Gln698Ter) rs63750832
NM_000179.2(MSH6):c.3820G>T (p.Glu1274Ter) rs587779294
NM_000179.2(MSH6):c.619G>T (p.Glu207Ter)
NM_000249.3(MLH1):c.2236_2247del (p.Leu746_Leu749del)
NM_000251.2(MSH2):c.1015C>T (p.Gln339Ter) rs1558466577
NM_000535.7(PMS2):c.678_681dup (p.Gly228fs) rs1562677687
NM_001258281.1(MSH2):c.744+1del rs1194793421

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.