ClinVar Miner

List of variants in gene EPCAM studied for Hereditary nonpolyposis colorectal neoplasms

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Gene type:
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Total variants: 86
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HGVS dbSNP gnomAD frequency
NM_002354.3(EPCAM):c.487C>T (p.Arg163Trp) rs148725106 0.00085
NM_002354.3(EPCAM):c.859-3C>G rs201314303 0.00018
NM_002354.3(EPCAM):c.93C>G (p.Asn31Lys) rs555329870 0.00016
NM_002354.3(EPCAM):c.616G>A (p.Asp206Asn) rs367993015 0.00012
NM_002354.3(EPCAM):c.161A>G (p.Gln54Arg) rs376674068 0.00011
NM_002354.3(EPCAM):c.111C>G (p.Asn37Lys) rs543584983 0.00009
NM_002354.3(EPCAM):c.298G>A (p.Asp100Asn) rs149274310 0.00005
NM_002354.3(EPCAM):c.450C>G (p.His150Gln) rs864622724 0.00005
NM_002354.3(EPCAM):c.269A>G (p.Asn90Ser) rs587780764 0.00004
NM_002354.3(EPCAM):c.342C>T (p.Ser114=) rs200495968 0.00004
NM_002354.3(EPCAM):c.501G>A (p.Gln167=) rs754990754 0.00004
NM_002354.3(EPCAM):c.533C>T (p.Pro178Leu) rs772471530 0.00004
NM_002354.3(EPCAM):c.194A>C (p.Lys65Thr) rs864622746 0.00003
NM_002354.3(EPCAM):c.517C>T (p.Arg173Cys) rs747286107 0.00003
NM_002354.3(EPCAM):c.518G>A (p.Arg173His) rs771569331 0.00003
NM_002354.3(EPCAM):c.360C>T (p.Asn120=) rs371217745 0.00002
NM_002354.3(EPCAM):c.491+10A>G rs751317067 0.00002
NM_002354.3(EPCAM):c.7C>T (p.Pro3Ser) rs587780772 0.00002
NM_002354.3(EPCAM):c.815T>C (p.Ile272Thr) rs377276151 0.00002
NM_002354.3(EPCAM):c.833C>T (p.Ala278Val) rs778825812 0.00002
NM_002354.3(EPCAM):c.20T>A (p.Leu7His) rs878854486 0.00001
NM_002354.3(EPCAM):c.429G>A (p.Trp143Ter) rs878854488 0.00001
NM_002354.3(EPCAM):c.523C>T (p.Gln175Ter) rs878854491 0.00001
NM_002354.3(EPCAM):c.583C>G (p.Leu195Val) rs770760223 0.00001
NM_002354.3(EPCAM):c.612G>C (p.Gln204His) rs775276504 0.00001
NM_002354.3(EPCAM):c.643T>A (p.Tyr215Asn) rs750826481 0.00001
NM_002354.3(EPCAM):c.667G>C (p.Glu223Gln) rs372674836 0.00001
NM_002354.3(EPCAM):c.739A>C (p.Thr247Pro) rs147958220 0.00001
NM_002354.3(EPCAM):c.766G>T (p.Ala256Ser) rs864622089 0.00001
NM_002354.3(EPCAM):c.76G>A (p.Glu26Lys) rs764492954 0.00001
NC_000002.11:g.(?_47596635)_(47596730_?)dup
NC_000002.11:g.(?_47596645)_(47596730_?)dup
NC_000002.11:g.(?_47596645)_(47604226_?)del
NC_000002.11:g.(?_47596645)_(47604226_?)dup
NC_000002.11:g.(?_47596645)_(47607118_?)del
NC_000002.11:g.(?_47600592)_(47604226_?)del
NC_000002.11:g.(?_47600592)_(47613752_?)del
NC_000002.11:g.(?_47604143)_(47613752_?)del
NC_000002.11:g.(?_47612295)_(47613752_?)dup
NC_000002.11:g.(?_47612824)_(47615711_?)del
NC_000002.12:g.(?_47369496)_(47369591_?)del
NC_000002.12:g.(?_47369496)_(47379979_?)del
NC_000002.12:g.(?_47369500)_(47369587_?)del
NC_000002.12:g.(?_47369506)_(47369591_?)del
NC_000002.12:g.(?_47369506)_(47379979_?)dup
NC_000002.12:g.(?_47369506)_(47386613_?)del
NC_000002.12:g.(?_47369506)_(47386613_?)dup
NC_000002.12:g.(?_47373463)_(47377077_?)del
NC_000002.12:g.(?_47377004)_(47377087_?)del
NC_000002.12:g.(?_47378939)_(47386613_?)del
NC_000002.12:g.(?_47385055)_(47391097_?)del
NC_000002.12:g.(?_47385156)_(47386613_?)del
NC_000002.12:g.(?_47385156)_(47386623_?)del
NM_002354.3(EPCAM):c.123T>A (p.Asn41Lys) rs750032094
NM_002354.3(EPCAM):c.125A>G (p.Asn42Ser) rs864622433
NM_002354.3(EPCAM):c.133C>T (p.Gln45Ter) rs878854485
NM_002354.3(EPCAM):c.151G>T (p.Val51Phe) rs781673286
NM_002354.3(EPCAM):c.288T>C (p.Asp96=) rs864622181
NM_002354.3(EPCAM):c.28G>A (p.Gly10Arg) rs863224709
NM_002354.3(EPCAM):c.299A>T (p.Asp100Val) rs587780557
NM_002354.3(EPCAM):c.320C>T (p.Ala107Val) rs863224710
NM_002354.3(EPCAM):c.34C>A (p.Leu12Met) rs746990000
NM_002354.3(EPCAM):c.380C>T (p.Thr127Ile) rs863224711
NM_002354.3(EPCAM):c.390C>G (p.Asp130Glu) rs863224389
NM_002354.3(EPCAM):c.436A>G (p.Ile146Val) rs751352456
NM_002354.3(EPCAM):c.459A>G (p.Arg153=) rs878854489
NM_002354.3(EPCAM):c.45GGCGAC[1] (p.16AT[1]) rs878854490
NM_002354.3(EPCAM):c.45_65del (p.Thr17_Ala23del) rs864622092
NM_002354.3(EPCAM):c.491+1G>T rs606231203
NM_002354.3(EPCAM):c.496C>T (p.Leu166Phe) rs587780768
NM_002354.3(EPCAM):c.50C>T (p.Thr17Met) rs116429842
NM_002354.3(EPCAM):c.555+7T>A rs864622648
NM_002354.3(EPCAM):c.558T>C (p.Tyr186=) rs878854492
NM_002354.3(EPCAM):c.595TCT[1] (p.Ser200del) rs863224840
NM_002354.3(EPCAM):c.601C>G (p.Gln201Glu) rs878854493
NM_002354.3(EPCAM):c.690A>C (p.Lys230Asn) rs864622463
NM_002354.3(EPCAM):c.712del (p.Glu238fs) rs1558438591
NM_002354.3(EPCAM):c.729T>C (p.Asp243=) rs864622420
NM_002354.3(EPCAM):c.74A>T (p.Glu25Val) rs878854494
NM_002354.3(EPCAM):c.762A>G (p.Glu254=) rs863224390
NM_002354.3(EPCAM):c.835G>C (p.Val279Leu) rs878854495
NM_002354.3(EPCAM):c.859-1G>A rs863224453
NM_002354.3(EPCAM):c.866C>T (p.Ser289Phe) rs864622286
NM_002354.3(EPCAM):c.878G>A (p.Arg293Lys) rs786204192
NM_002354.3(EPCAM):c.904-2A>G rs878854496
NM_002354.3(EPCAM):c.99G>A (p.Lys33=) rs878854498

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