List of variants reported as pathogenic for colorectal cancer by University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM)

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000251.3(MSH2):c.942+3A>T	rs193922376	0.00072
NM_000249.4(MLH1):c.1546C>T (p.Gln516Ter)	rs1553653195
NM_000249.4(MLH1):c.1732-2A>C	rs267607852
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del)	rs63751247
NM_000249.4(MLH1):c.55_63delinsT (p.Ile19fs)	rs2125694105
NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter)	rs587779075

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.