ClinVar Miner

List of variants in gene EPCAM studied for Lynch syndrome 8

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_002354.3(EPCAM):c.344T>C (p.Met115Thr) rs1126497 0.57918
NM_002354.3(EPCAM):c.904-12T>C rs62139669 0.03423
NM_002354.3(EPCAM):c.492-5T>C rs78608315 0.02826
NM_002354.3(EPCAM):c.859-7C>T rs72882786 0.02124
NM_002354.3(EPCAM):c.426-20A>G rs6744170 0.01762
NM_002354.3(EPCAM):c.515C>T (p.Thr172Met) rs74531854 0.00293
NM_002354.3(EPCAM):c.135A>G (p.Gln45=) rs72882770 0.00280
NM_002354.3(EPCAM):c.858G>A (p.Leu286=) rs138718438 0.00206
NM_002354.3(EPCAM):c.859-6A>G rs150307203 0.00191
NM_002354.3(EPCAM):c.5C>T (p.Ala2Val) rs201402370 0.00187
NM_002354.3(EPCAM):c.159A>C (p.Ala53=) rs150562209 0.00105
NM_002354.3(EPCAM):c.304A>G (p.Ser102Gly) rs34474955 0.00040
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.161A>G (p.Gln54Arg) rs376674068 0.00010
NM_002354.3(EPCAM):c.111C>G (p.Asn37Lys) rs543584983 0.00009
NM_002354.3(EPCAM):c.232C>G (p.Leu78Val) rs587780763 0.00005
NM_002354.3(EPCAM):c.342C>T (p.Ser114=) rs200495968 0.00005
NM_002354.3(EPCAM):c.501G>A (p.Gln167=) rs754990754 0.00005
NM_002354.3(EPCAM):c.255A>T (p.Glu85Asp) rs569806641 0.00003
NM_002354.3(EPCAM):c.165T>C (p.Asn55=) rs201645229 0.00001
NM_002354.3(EPCAM):c.413G>A (p.Arg138Gln) rs747098539 0.00001
NC_000002.11:g.(?_47612305)_(47613752_?)dup
NC_000002.12:g.47383704_47388612del
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) rs2103747052
NM_002354.3(EPCAM):c.344T>A (p.Met115Lys) rs1126497
NM_002354.3(EPCAM):c.344_345inv (p.Met115Thr)
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) rs2465465879
NM_002354.3(EPCAM):c.556-1_657+289del
NM_002354.3(EPCAM):c.556_945del390 (p.Tyr186_Ter315del)
NM_002354.3(EPCAM):c.64G>A (p.Ala22Thr) rs2103738227
NM_002354.3(EPCAM):c.849T>G (p.Ile283Met) rs1433153946
NM_002354.3(EPCAM):c.849TGT[1] (p.Val285del) rs1424757619
NM_002354.3(EPCAM):c.904-1_*1del
NR_030286.1(MIR559):n.278_23134del

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