ClinVar Miner

List of variants in gene EPCAM studied for Lynch syndrome

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 114
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HGVS dbSNP
NC_000002.11:g.(?_47596287)_(47596720_?)dup
NC_000002.11:g.(?_47596287)_(47604216_?)dup
NC_000002.11:g.(?_47604153)_(47604216_?)del
NC_000002.11:g.(?_47606092)_(47614167_?)del
NM_002354.2(EPCAM):c.*118T>C rs1421
NM_002354.2(EPCAM):c.*147dup rs886056132
NM_002354.2(EPCAM):c.*168C>T rs886056133
NM_002354.2(EPCAM):c.*241C>G rs184633732
NM_002354.2(EPCAM):c.*246G>T rs551199869
NM_002354.2(EPCAM):c.*261G>C rs189199539
NM_002354.2(EPCAM):c.*265A>T rs11554292
NM_002354.2(EPCAM):c.*28G>A rs766267508
NM_002354.2(EPCAM):c.*362A>G rs539981178
NM_002354.2(EPCAM):c.*36G>A rs77204711
NM_002354.2(EPCAM):c.*41T>G rs200991028
NM_002354.2(EPCAM):c.*73C>T rs1803881
NM_002354.2(EPCAM):c.-111G>A rs886056130
NM_002354.2(EPCAM):c.-162T>A rs886056129
NM_002354.2(EPCAM):c.-189C>G rs539900942
NM_002354.2(EPCAM):c.-192G>T rs376344699
NM_002354.2(EPCAM):c.-203C>G rs886056128
NM_002354.2(EPCAM):c.-221G>A rs572608653
NM_002354.2(EPCAM):c.-247G>C rs371271353
NM_002354.2(EPCAM):c.-253G>C rs752048938
NM_002354.2(EPCAM):c.-280G>C rs545339093
NM_002354.2(EPCAM):c.-318C>A rs886056127
NM_002354.2(EPCAM):c.-324C>A rs886056126
NM_002354.2(EPCAM):c.-349G>T rs766549830
NM_002354.2(EPCAM):c.-79C>T rs886056131
NM_002354.2(EPCAM):c.-98C>G rs528859440
NM_002354.2(EPCAM):c.111C>G (p.Asn37Lys) rs543584983
NM_002354.2(EPCAM):c.123T>A (p.Asn41Lys) rs750032094
NM_002354.2(EPCAM):c.125A>G (p.Asn42Ser) rs864622433
NM_002354.2(EPCAM):c.131G>A (p.Arg44His) rs538099447
NM_002354.2(EPCAM):c.133C>T (p.Gln45Ter) rs878854485
NM_002354.2(EPCAM):c.147T>C (p.Thr49=) rs190508047
NM_002354.2(EPCAM):c.151G>T (p.Val51Phe) rs781673286
NM_002354.2(EPCAM):c.161A>G (p.Gln54Arg) rs376674068
NM_002354.2(EPCAM):c.179C>T (p.Ser60Leu) rs147494515
NM_002354.2(EPCAM):c.194A>C (p.Lys65Thr) rs864622746
NM_002354.2(EPCAM):c.20T>A (p.Leu7His) rs878854486
NM_002354.2(EPCAM):c.21C>A (p.Leu7=) rs878854487
NM_002354.2(EPCAM):c.267G>C (p.Gln89His) rs146480420
NM_002354.2(EPCAM):c.269A>G (p.Asn90Ser) rs587780764
NM_002354.2(EPCAM):c.272A>G (p.Asn91Ser) rs755230402
NM_002354.2(EPCAM):c.28G>A (p.Gly10Arg) rs863224709
NM_002354.2(EPCAM):c.299A>G (p.Asp100Gly) rs587780557
NM_002354.2(EPCAM):c.299A>T (p.Asp100Val) rs587780557
NM_002354.2(EPCAM):c.319G>A (p.Ala107Thr) rs587780765
NM_002354.2(EPCAM):c.320C>T (p.Ala107Val) rs863224710
NM_002354.2(EPCAM):c.344T>C (p.Met115Thr) rs1126497
NM_002354.2(EPCAM):c.34C>A (p.Leu12Met) rs746990000
NM_002354.2(EPCAM):c.380C>T (p.Thr127Ile) rs863224711
NM_002354.2(EPCAM):c.390C>G (p.Asp130Glu) rs863224389
NM_002354.2(EPCAM):c.390C>T (p.Asp130=) rs863224389
NM_002354.2(EPCAM):c.392C>A (p.Thr131Asn) rs748892317
NM_002354.2(EPCAM):c.426-20A>G rs6744170
NM_002354.2(EPCAM):c.436A>G (p.Ile146Val) rs751352456
NM_002354.2(EPCAM):c.450C>G (p.His150Gln) rs864622724
NM_002354.2(EPCAM):c.45_65del (p.Thr17_Ala23del) rs864622092
NM_002354.2(EPCAM):c.466C>T (p.Pro156Ser) rs587780766
NM_002354.2(EPCAM):c.487C>T (p.Arg163Trp) rs148725106
NM_002354.2(EPCAM):c.491C>T (p.Thr164Ile) rs587780767
NM_002354.2(EPCAM):c.492-5T>C rs78608315
NM_002354.2(EPCAM):c.496C>T (p.Leu166Phe) rs587780768
NM_002354.2(EPCAM):c.50C>A (p.Thr17Lys) rs116429842
NM_002354.2(EPCAM):c.50C>T (p.Thr17Met) rs116429842
NM_002354.2(EPCAM):c.515C>T (p.Thr172Met) rs74531854
NM_002354.2(EPCAM):c.517C>T (p.Arg173Cys) rs747286107
NM_002354.2(EPCAM):c.518G>A (p.Arg173His) rs771569331
NM_002354.2(EPCAM):c.51_56delGGCGAC rs878854490
NM_002354.2(EPCAM):c.523C>T (p.Gln175Ter) rs878854491
NM_002354.2(EPCAM):c.533C>T (p.Pro178Leu) rs772471530
NM_002354.2(EPCAM):c.556-14A>G rs376155665
NM_002354.2(EPCAM):c.574A>T (p.Thr192Ser) rs587780769
NM_002354.2(EPCAM):c.577A>G (p.Ile193Val) rs200676965
NM_002354.2(EPCAM):c.583C>G (p.Leu195Val) rs770760223
NM_002354.2(EPCAM):c.597T>C (p.Ser199=) rs587780770
NM_002354.2(EPCAM):c.598_600delTCT rs863224840
NM_002354.2(EPCAM):c.601C>G (p.Gln201Glu) rs878854493
NM_002354.2(EPCAM):c.603A>G (p.Gln201=) rs730882126
NM_002354.2(EPCAM):c.612G>C (p.Gln204His) rs775276504
NM_002354.2(EPCAM):c.616G>A (p.Asp206Asn) rs367993015
NM_002354.2(EPCAM):c.63C>G (p.Ala21=) rs549177672
NM_002354.2(EPCAM):c.643T>A (p.Tyr215Asn) rs750826481
NM_002354.2(EPCAM):c.658-6A>G rs768723264
NM_002354.2(EPCAM):c.667G>C (p.Glu223Gln) rs372674836
NM_002354.2(EPCAM):c.690A>C (p.Lys230Asn) rs864622463
NM_002354.2(EPCAM):c.739A>C (p.Thr247Pro) rs147958220
NM_002354.2(EPCAM):c.74A>T (p.Glu25Val) rs878854494
NM_002354.2(EPCAM):c.76+5G>A rs863224712
NM_002354.2(EPCAM):c.764A>C (p.Lys255Thr) rs587780771
NM_002354.2(EPCAM):c.766G>T (p.Ala256Ser) rs864622089
NM_002354.2(EPCAM):c.76G>A (p.Glu26Lys) rs764492954
NM_002354.2(EPCAM):c.77-11T>A rs114241106
NM_002354.2(EPCAM):c.7C>T (p.Pro3Ser) rs587780772
NM_002354.2(EPCAM):c.815T>C (p.Ile272Thr) rs377276151
NM_002354.2(EPCAM):c.831A>G (p.Ile277Met) rs115283528
NM_002354.2(EPCAM):c.833C>T (p.Ala278Val) rs778825812
NM_002354.2(EPCAM):c.835G>C (p.Val279Leu) rs878854495
NM_002354.2(EPCAM):c.859-1462_*1999del
NM_002354.2(EPCAM):c.859-1G>A rs863224453
NM_002354.2(EPCAM):c.859-3C>G rs201314303
NM_002354.2(EPCAM):c.859-6A>C rs150307203
NM_002354.2(EPCAM):c.859-6A>G rs150307203
NM_002354.2(EPCAM):c.859-7C>T rs72882786
NM_002354.2(EPCAM):c.859-?_*415+?dup
NM_002354.2(EPCAM):c.859-?_*415del
NM_002354.2(EPCAM):c.866C>T (p.Ser289Phe) rs864622286
NM_002354.2(EPCAM):c.878G>A (p.Arg293Lys) rs786204192
NM_002354.2(EPCAM):c.904-12T>C rs62139669
NM_002354.2(EPCAM):c.904-2A>G rs878854496
NM_002354.2(EPCAM):c.904-?_945+?del
NR_030286.1(MIR559):n.278_23134del

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