ClinVar Miner

List of variants reported as likely pathogenic for Desmoid disease, hereditary; Familial adenomatous polyposis 1; Hepatocellular carcinoma; Gastric cancer; Colorectal cancer; Gastric adenocarcinoma and proximal polyposis of the stomach

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000038.6(APC):c.2206A>T (p.Lys736Ter)
NM_000038.6(APC):c.406G>T (p.Glu136Ter)
NM_000038.6(APC):c.4638_4639del (p.Asn1546fs) rs1561594148
NM_000038.6(APC):c.645+1G>T rs863225370
NM_000038.6(APC):c.6634dup (p.Gln2212fs)
NM_000038.6(APC):c.834+1G>A rs1554076225

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.