ClinVar Miner

List of variants in gene EPCAM reported as likely pathogenic for digestive system disorder

Included ClinVar conditions (605):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002354.3(EPCAM):c.556-14A>G rs376155665 0.00003
NC_000002.12:g.(?_47373453)_(47379979_?)dup
NM_002354.3(EPCAM):c.13C>T (p.Gln5Ter) rs747738988
NM_002354.3(EPCAM):c.439G>T (p.Glu147Ter) rs987919056
NM_002354.3(EPCAM):c.859-1G>A rs863224453
NM_002354.3(EPCAM):c.904-1_904del rs2103770769
NM_002354.3(EPCAM):c.904-2A>G rs878854496

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.