ClinVar Miner

List of variants in gene EPCAM studied for colorectal cancer

Included ClinVar conditions (91):
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Gene type:
ClinVar version:
Total variants: 76
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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.904-12T>C rs62139669 0.03374
NM_002354.3(EPCAM):c.492-5T>C rs78608315 0.02826
NM_002354.3(EPCAM):c.859-7C>T rs72882786 0.02290
NM_002354.3(EPCAM):c.426-20A>G rs6744170 0.01762
NM_002354.3(EPCAM):c.491+19A>T rs114475602 0.00306
NM_002354.3(EPCAM):c.135A>G (p.Gln45=) rs72882770 0.00298
NM_002354.3(EPCAM):c.858G>A (p.Leu286=) rs138718438 0.00222
NM_002354.3(EPCAM):c.515C>T (p.Thr172Met) rs74531854 0.00220
NM_002354.3(EPCAM):c.859-6A>G rs150307203 0.00191
NM_002354.3(EPCAM):c.159A>C (p.Ala53=) rs150562209 0.00105
NM_002354.3(EPCAM):c.304A>G (p.Ser102Gly) rs34474955 0.00041
NM_002354.3(EPCAM):c.577A>G (p.Ile193Val) rs200676965 0.00029
NM_002354.3(EPCAM):c.458G>C (p.Arg153Thr) rs189732445 0.00020
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.179C>T (p.Ser60Leu) rs147494515 0.00006
NM_002354.3(EPCAM):c.232C>G (p.Leu78Val) rs587780763 0.00005
NM_002354.3(EPCAM):c.-79C>T rs886056131 0.00004
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.658-6A>G rs768723264 0.00003
NM_002354.3(EPCAM):c.147T>C (p.Thr49=) rs190508047 0.00002
NM_002354.3(EPCAM):c.466C>T (p.Pro156Ser) rs587780766 0.00002
NM_002354.3(EPCAM):c.-192G>T rs376344699 0.00001
NM_002354.3(EPCAM):c.11C>T (p.Pro4Leu) rs778641299 0.00001
NM_002354.3(EPCAM):c.165T>C (p.Asn55=) rs201645229 0.00001
NM_002354.3(EPCAM):c.319G>A (p.Ala107Thr) rs587780765 0.00001
NM_002354.3(EPCAM):c.603A>G (p.Gln201=) rs730882126 0.00001
NC_000002.11:g.(47607109_47612304)_(47614160_?)del
NC_000002.11:g.(?_47596286)_(47614168_?)del
NC_000002.11:g.(?_47596287)_(47596720_?)dup
NC_000002.11:g.(?_47596287)_(47604216_?)dup
NC_000002.12:g.(47379970_47385165)_(47387029_?)del
NC_000002.12:g.(?_47377014)_(47377077_?)del
NC_000002.12:g.(?_47378953)_(47387028_?)del
NC_000002.12:g.47383704_47388612del
NM_002354.2(EPCAM):c.859-1430_*2033del
NM_002354.2(EPCAM):c.859-?_*415+?dup
NM_002354.2(EPCAM):c.859-?_*415del
NM_002354.2(EPCAM):c.904-?_945+?del
NM_002354.3(EPCAM):c.*147dup rs886056132
NM_002354.3(EPCAM):c.-1C>G rs533255660
NM_002354.3(EPCAM):c.-2_77del (p.Met1fs) rs2103737908
NM_002354.3(EPCAM):c.214G>A (p.Glu72Lys)
NM_002354.3(EPCAM):c.224G>A (p.Gly75Asp)
NM_002354.3(EPCAM):c.255A>T (p.Glu85Asp)
NM_002354.3(EPCAM):c.260C>T (p.Ala87Val)
NM_002354.3(EPCAM):c.267G>C (p.Gln89His) rs146480420
NM_002354.3(EPCAM):c.299A>G (p.Asp100Gly) rs587780557
NM_002354.3(EPCAM):c.344T>A (p.Met115Lys) rs1126497
NM_002354.3(EPCAM):c.344_345inv (p.Met115Thr)
NM_002354.3(EPCAM):c.413G>A (p.Arg138Gln)
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.50C>A (p.Thr17Lys) rs116429842
NM_002354.3(EPCAM):c.50C>T (p.Thr17Met) rs116429842
NM_002354.3(EPCAM):c.527T>C (p.Leu176Pro)
NM_002354.3(EPCAM):c.556-3_657+288del rs2103756948
NM_002354.3(EPCAM):c.595TCT[1] (p.Ser200del) rs863224840
NM_002354.3(EPCAM):c.597T>C (p.Ser199=) rs587780770
NM_002354.3(EPCAM):c.64G>A (p.Ala22Thr) rs2103738227
NM_002354.3(EPCAM):c.730C>G (p.Pro244Ala) rs755757555
NM_002354.3(EPCAM):c.76+5G>A rs863224712
NM_002354.3(EPCAM):c.764A>C (p.Lys255Thr) rs587780771
NM_002354.3(EPCAM):c.849T>G (p.Ile283Met)
NM_002354.3(EPCAM):c.849TGT[1] (p.Val285del) rs1424757619
NM_002354.3(EPCAM):c.859-2_903+43del rs2103768437
NM_002354.3(EPCAM):c.859-6A>C rs150307203
NM_002354.3(EPCAM):c.903+5A>G rs199784016
NM_002354.3(EPCAM):c.904-1_904del rs2103770769
NR_030286.1(MIR559):n.278_23134del

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