ClinVar Miner

List of variants in gene EPCAM studied for congenital diarrhea 5 with tufting enteropathy

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 32
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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
NM_002354.2(EPCAM):c.*362A>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.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.265C>T (p.Gln89Ter) rs1324088403
NM_002354.3(EPCAM):c.373_374insC (p.Arg125fs) rs1553342984
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.499dup (p.Gln167fs) rs606231204
NM_002354.3(EPCAM):c.509_511del (p.Ile170del)
NM_002354.3(EPCAM):c.658-1G>T rs1573400213
NM_002354.3(EPCAM):c.79T>G (p.Cys27Gly)

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