ClinVar Miner

List of variants in gene EPCAM studied for secretory diarrhea

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 44
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002354.3(EPCAM):c.344T>C (p.Met115Thr) rs1126497 0.58219
NM_002354.3(EPCAM):c.491+19A>T rs114475602 0.00306
NC_000002.12:g.47386975A>G rs539981178 0.00039
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.518G>A (p.Arg173His) rs771569331 0.00003
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.38T>C (p.Leu13Pro) rs776646187 0.00002
NM_002354.3(EPCAM):c.426-1G>A rs373597944 0.00002
NM_002354.3(EPCAM):c.466C>T (p.Pro156Ser) rs587780766 0.00002
NM_002354.3(EPCAM):c.491+1G>A rs606231203 0.00002
NM_002354.3(EPCAM):c.11C>T (p.Pro4Leu) rs778641299 0.00001
NM_002354.3(EPCAM):c.76+21G>C rs762123721 0.00001
NC_000002.12:g.47387047CTT[2] rs151274680
NC_000002.12:g.47387064C>T rs796191687
NC_000002.12:g.47387076_47387080dup rs565249366
NC_000002.12:g.47387079_47387080dup rs565249366
NC_000002.12:g.47387080dup rs565249366
NM_002354.3(EPCAM):c.13C>T (p.Gln5Ter) rs747738988
NM_002354.3(EPCAM):c.197G>A (p.Cys66Tyr) rs267606785
NM_002354.3(EPCAM):c.224G>A (p.Gly75Asp)
NM_002354.3(EPCAM):c.227C>G (p.Ser76Ter)
NM_002354.3(EPCAM):c.265C>T (p.Gln89Ter) rs1324088403
NM_002354.3(EPCAM):c.347G>A (p.Cys116Tyr)
NM_002354.3(EPCAM):c.35T>G (p.Leu12Arg)
NM_002354.3(EPCAM):c.373_374insC (p.Arg125fs) rs1553342984
NM_002354.3(EPCAM):c.377G>A (p.Arg126Lys)
NM_002354.3(EPCAM):c.412C>T (p.Arg138Ter) rs397514661
NM_002354.3(EPCAM):c.439G>T (p.Glu147Ter) rs987919056
NM_002354.3(EPCAM):c.492-2A>G rs606231281
NM_002354.3(EPCAM):c.492-8C>T
NM_002354.3(EPCAM):c.499dup (p.Gln167fs) rs606231204
NM_002354.3(EPCAM):c.509_511del (p.Ile170del) rs1558436866
NM_002354.3(EPCAM):c.540del (p.Phe180fs)
NM_002354.3(EPCAM):c.579del (p.Ile193fs)
NM_002354.3(EPCAM):c.589C>T (p.Gln197Ter)
NM_002354.3(EPCAM):c.610C>T (p.Gln204Ter)
NM_002354.3(EPCAM):c.658-1G>T rs1573400213
NM_002354.3(EPCAM):c.79T>G (p.Cys27Gly)
NM_002354.3(EPCAM):c.83_88del (p.Val28_Cys29del)

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.