ClinVar Miner

List of variants studied for colorectal neoplasm by Genome Sciences Centre, British Columbia Cancer Agency

Included ClinVar conditions (84):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_000038.6(APC):c.1682del (p.Lys561fs) rs1554082118
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs) rs121913224
NM_000038.6(APC):c.3956del (p.Pro1319fs) rs1057517558
NM_000038.6(APC):c.847C>T (p.Arg283Ter) rs786201856
NM_000546.6(TP53):c.919+1G>T rs1131691039
NM_006218.4(PIK3CA):c.112C>T (p.Arg38Cys) rs749415085

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.