ClinVar Miner

List of variants in gene EPCAM studied for Lynch syndrome

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_002354.3(EPCAM):c.147T>C (p.Thr49=) rs190508047 0.00008
NM_002354.3(EPCAM):c.-79C>T rs886056131 0.00005
NM_002354.3(EPCAM):c.658-6A>G rs768723264 0.00003
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.319G>A (p.Ala107Thr) rs587780765 0.00001
NM_002354.3(EPCAM):c.603A>G (p.Gln201=) rs730882126 0.00001
NC_000002.11:g.(?_47596287)_(47596720_?)dup
NC_000002.11:g.(?_47596287)_(47604216_?)dup
NC_000002.11:g.(?_47596646)_(47596720_?)dup
NC_000002.12:g.(?_47377014)_(47377077_?)del
NC_000002.12:g.(?_47378953)_(47387028_?)del
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.267G>C (p.Gln89His) rs146480420
NM_002354.3(EPCAM):c.299A>G (p.Asp100Gly) rs587780557
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.595TCT[1] (p.Ser200del) rs863224840
NM_002354.3(EPCAM):c.597T>C (p.Ser199=) rs587780770
NM_002354.3(EPCAM):c.76+5G>A rs863224712
NM_002354.3(EPCAM):c.764A>C (p.Lys255Thr) rs587780771
NM_002354.3(EPCAM):c.859-6A>C rs150307203

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