ClinVar Miner

List of variants in gene EPCAM reported by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_002354.3(EPCAM):c.344T>C (p.Met115Thr) rs1126497 0.58219
NM_002354.2(EPCAM):c.*118T>C rs1421 0.10369
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.77-11T>A rs114241106 0.00733
NM_002354.3(EPCAM):c.345G>A (p.Met115Ile) rs115212523 0.00311
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.5C>T (p.Ala2Val) rs201402370 0.00192
NM_002354.3(EPCAM):c.859-6A>G rs150307203 0.00191
NM_002354.3(EPCAM):c.831A>G (p.Ile277Met) rs115283528 0.00135
NM_002354.3(EPCAM):c.159A>C (p.Ala53=) rs150562209 0.00105
NM_002354.3(EPCAM):c.487C>T (p.Arg163Trp) rs148725106 0.00085
NM_002354.2(EPCAM):c.*362A>G rs539981178 0.00039
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.76+6G>T rs774722931 0.00013
NM_002354.3(EPCAM):c.6G>T (p.Ala2=) rs374563131 0.00009
NM_002354.3(EPCAM):c.106G>A (p.Val36Ile) rs771315207 0.00006
NM_002354.3(EPCAM):c.232C>G (p.Leu78Val) rs587780763 0.00005
NM_002354.3(EPCAM):c.171C>A (p.Val57=) rs369992289 0.00004
NM_002354.3(EPCAM):c.269A>G (p.Asn90Ser) rs587780764 0.00004
NM_002354.3(EPCAM):c.516G>A (p.Thr172=) rs371372017 0.00003
NM_002354.3(EPCAM):c.147T>C (p.Thr49=) rs190508047 0.00002
NM_002354.3(EPCAM):c.360C>T (p.Asn120=) rs371217745 0.00002
NM_002354.3(EPCAM):c.185-3C>T rs994185808 0.00001
NM_002354.3(EPCAM):c.297C>T (p.Cys99=) rs143264703 0.00001
NM_002354.3(EPCAM):c.*128A>G
NM_002354.3(EPCAM):c.103G>A (p.Ala35Thr)
NM_002354.3(EPCAM):c.108A>C (p.Val36=)
NM_002354.3(EPCAM):c.175T>A (p.Cys59Ser)
NM_002354.3(EPCAM):c.184+1G>A rs866758817
NM_002354.3(EPCAM):c.184+6T>G
NM_002354.3(EPCAM):c.1A>G (p.Met1Val)
NM_002354.3(EPCAM):c.267G>C (p.Gln89His) rs146480420
NM_002354.3(EPCAM):c.369G>A (p.Gly123=)
NM_002354.3(EPCAM):c.388G>A (p.Asp130Asn)
NM_002354.3(EPCAM):c.390C>G (p.Asp130Glu) rs863224389
NM_002354.3(EPCAM):c.403T>G (p.Cys135Gly) rs1339957116
NM_002354.3(EPCAM):c.413G>A (p.Arg138Gln)
NM_002354.3(EPCAM):c.50C>A (p.Thr17Lys) rs116429842
NM_002354.3(EPCAM):c.53_73del (p.Ala18_Gln24del) rs1558432728
NM_002354.3(EPCAM):c.556-19_556-17del rs529478744
NM_002354.3(EPCAM):c.556-20T>C
NM_002354.3(EPCAM):c.658-9del rs557572119
NM_002354.3(EPCAM):c.828G>A (p.Val276=) rs1573400459
NM_002354.3(EPCAM):c.859-2A>G rs1558441261
NM_002354.3(EPCAM):c.894G>A (p.Glu298=)
NM_002354.3(EPCAM):c.903+15T>C rs1558441304

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