ClinVar Miner

List of variants studied for Carcinoma of colon by Genetic Predisposition to Colorectal Cancer Group, Institut d’Investigacions Biomediques August Pi i Sunyer

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_021922.3(FANCE):c.598C>T (p.Arg200Cys) rs763151358 0.00007
NM_000059.4(BRCA2):c.7759C>T (p.Leu2587Phe) rs56335340 0.00001
NM_001372078.1(REV3L):c.559A>T (p.Arg187Trp) rs1057519367 0.00001
NM_000059.4(BRCA2):c.4963del (p.Tyr1655fs) rs886040557
NM_000136.3(FANCC):c.595dup (p.Leu199fs) rs1057519366
NM_032043.3(BRIP1):c.1702_1703del (p.Asn568fs) rs1057519365

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.