ClinVar Miner

List of variants studied for Congenital diarrhea 5 with tufting enteropathy; Lynch syndrome 8

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002354.3(EPCAM):c.491+19A>T rs114475602 0.00306
NM_002354.3(EPCAM):c.577A>G (p.Ile193Val) rs200676965 0.00029
NM_002354.3(EPCAM):c.616G>A (p.Asp206Asn) rs367993015 0.00012
NM_002354.3(EPCAM):c.179C>T (p.Ser60Leu) rs147494515 0.00006
NM_002354.3(EPCAM):c.232C>G (p.Leu78Val) rs587780763 0.00005
NM_002354.3(EPCAM):c.342C>T (p.Ser114=) rs200495968 0.00004
NM_002354.3(EPCAM):c.556-14A>G rs376155665 0.00003
NM_002354.3(EPCAM):c.574A>T (p.Thr192Ser) rs587780769 0.00003
NM_002354.3(EPCAM):c.466C>T (p.Pro156Ser) rs587780766 0.00002
NM_002354.3(EPCAM):c.11C>T (p.Pro4Leu) rs778641299 0.00001
NM_002354.3(EPCAM):c.224G>A (p.Gly75Asp)

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.