ClinVar Miner

List of variants in gene EPCAM reported as uncertain significance for Hereditary cancer-predisposing syndrome

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Gene type:
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Total variants: 231
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HGVS dbSNP gnomAD frequency
NM_002354.3(EPCAM):c.345G>A (p.Met115Ile) rs115212523 0.00311
NM_002354.3(EPCAM):c.304A>G (p.Ser102Gly) rs34474955 0.00041
NM_002354.3(EPCAM):c.616G>A (p.Asp206Asn) rs367993015 0.00012
NM_002354.3(EPCAM):c.179C>T (p.Ser60Leu) rs147494515 0.00006
NM_002354.3(EPCAM):c.392C>A (p.Thr131Asn) rs748892317 0.00006
NM_002354.3(EPCAM):c.269A>G (p.Asn90Ser) rs587780764 0.00004
NM_002354.3(EPCAM):c.134A>T (p.Gln45Leu) rs372142268 0.00003
NM_002354.3(EPCAM):c.517C>T (p.Arg173Cys) rs747286107 0.00003
NM_002354.3(EPCAM):c.38T>C (p.Leu13Pro) rs776646187 0.00002
NM_002354.3(EPCAM):c.466C>T (p.Pro156Ser) rs587780766 0.00002
NM_002354.3(EPCAM):c.833C>T (p.Ala278Val) rs778825812 0.00002
NM_002354.3(EPCAM):c.*3A>G rs748677907 0.00001
NM_002354.3(EPCAM):c.20T>A (p.Leu7His) rs878854486 0.00001
NM_002354.3(EPCAM):c.319G>A (p.Ala107Thr) rs587780765 0.00001
NM_002354.3(EPCAM):c.338C>T (p.Thr113Ile) rs753947304 0.00001
NM_002354.3(EPCAM):c.433A>G (p.Ile145Val) rs1481507644 0.00001
NM_002354.3(EPCAM):c.514A>G (p.Thr172Ala) rs754496546 0.00001
NM_002354.3(EPCAM):c.612G>C (p.Gln204His) rs775276504 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.116T>G (p.Phe39Cys)
NM_002354.3(EPCAM):c.11C>G (p.Pro4Arg)
NM_002354.3(EPCAM):c.123T>A (p.Asn41Lys) rs750032094
NM_002354.3(EPCAM):c.128A>G (p.Asn43Ser)
NM_002354.3(EPCAM):c.130C>T (p.Arg44Cys)
NM_002354.3(EPCAM):c.131G>T (p.Arg44Leu)
NM_002354.3(EPCAM):c.136T>A (p.Cys46Ser)
NM_002354.3(EPCAM):c.146C>G (p.Thr49Ser)
NM_002354.3(EPCAM):c.151G>T (p.Val51Phe) rs781673286
NM_002354.3(EPCAM):c.154G>T (p.Gly52Cys)
NM_002354.3(EPCAM):c.155G>C (p.Gly52Ala)
NM_002354.3(EPCAM):c.164A>G (p.Asn55Ser)
NM_002354.3(EPCAM):c.172A>G (p.Ile58Val)
NM_002354.3(EPCAM):c.172A>T (p.Ile58Phe)
NM_002354.3(EPCAM):c.173T>G (p.Ile58Ser)
NM_002354.3(EPCAM):c.176G>T (p.Cys59Phe)
NM_002354.3(EPCAM):c.177C>G (p.Cys59Trp)
NM_002354.3(EPCAM):c.193A>G (p.Lys65Glu)
NM_002354.3(EPCAM):c.19C>G (p.Leu7Val)
NM_002354.3(EPCAM):c.203T>G (p.Val68Gly) rs863224708
NM_002354.3(EPCAM):c.205A>G (p.Met69Val)
NM_002354.3(EPCAM):c.218T>C (p.Met73Thr)
NM_002354.3(EPCAM):c.224G>A (p.Gly75Asp)
NM_002354.3(EPCAM):c.233T>C (p.Leu78Pro)
NM_002354.3(EPCAM):c.235G>A (p.Gly79Arg)
NM_002354.3(EPCAM):c.23C>G (p.Ala8Gly)
NM_002354.3(EPCAM):c.244G>A (p.Ala82Thr)
NM_002354.3(EPCAM):c.245C>G (p.Ala82Gly)
NM_002354.3(EPCAM):c.255A>T (p.Glu85Asp)
NM_002354.3(EPCAM):c.257G>A (p.Gly86Glu)
NM_002354.3(EPCAM):c.257G>C (p.Gly86Ala)
NM_002354.3(EPCAM):c.260C>T (p.Ala87Val)
NM_002354.3(EPCAM):c.262C>T (p.Leu88Phe)
NM_002354.3(EPCAM):c.272A>G (p.Asn91Ser) rs755230402
NM_002354.3(EPCAM):c.273T>A (p.Asn91Lys)
NM_002354.3(EPCAM):c.280C>G (p.Leu94Val)
NM_002354.3(EPCAM):c.280C>T (p.Leu94Phe)
NM_002354.3(EPCAM):c.281T>G (p.Leu94Arg)
NM_002354.3(EPCAM):c.290C>T (p.Pro97Leu)
NM_002354.3(EPCAM):c.299A>T (p.Asp100Val) rs587780557
NM_002354.3(EPCAM):c.305G>A (p.Ser102Asn)
NM_002354.3(EPCAM):c.314T>A (p.Phe105Tyr)
NM_002354.3(EPCAM):c.318G>C (p.Lys106Asn)
NM_002354.3(EPCAM):c.332A>C (p.Asn111Thr)
NM_002354.3(EPCAM):c.337A>G (p.Thr113Ala)
NM_002354.3(EPCAM):c.341C>G (p.Ser114Cys)
NM_002354.3(EPCAM):c.343A>G (p.Met115Val)
NM_002354.3(EPCAM):c.34C>G (p.Leu12Val)
NM_002354.3(EPCAM):c.353G>T (p.Cys118Phe)
NM_002354.3(EPCAM):c.360C>A (p.Asn120Lys)
NM_002354.3(EPCAM):c.362C>G (p.Thr121Ser)
NM_002354.3(EPCAM):c.365C>T (p.Ala122Val)
NM_002354.3(EPCAM):c.370G>A (p.Val124Ile)
NM_002354.3(EPCAM):c.373A>G (p.Arg125Gly)
NM_002354.3(EPCAM):c.374G>A (p.Arg125Lys)
NM_002354.3(EPCAM):c.375A>C (p.Arg125Ser)
NM_002354.3(EPCAM):c.377G>A (p.Arg126Lys)
NM_002354.3(EPCAM):c.379A>C (p.Thr127Pro)
NM_002354.3(EPCAM):c.380C>G (p.Thr127Arg)
NM_002354.3(EPCAM):c.382G>T (p.Asp128Tyr)
NM_002354.3(EPCAM):c.389A>G (p.Asp130Gly)
NM_002354.3(EPCAM):c.390C>A (p.Asp130Glu)
NM_002354.3(EPCAM):c.390C>G (p.Asp130Glu) rs863224389
NM_002354.3(EPCAM):c.391A>G (p.Thr131Ala)
NM_002354.3(EPCAM):c.392C>T (p.Thr131Ile)
NM_002354.3(EPCAM):c.404G>A (p.Cys135Tyr)
NM_002354.3(EPCAM):c.405C>G (p.Cys135Trp)
NM_002354.3(EPCAM):c.416T>G (p.Val139Gly)
NM_002354.3(EPCAM):c.419G>C (p.Arg140Thr)
NM_002354.3(EPCAM):c.41C>T (p.Ala14Val)
NM_002354.3(EPCAM):c.436A>G (p.Ile146Val) rs751352456
NM_002354.3(EPCAM):c.441A>T (p.Glu147Asp)
NM_002354.3(EPCAM):c.442C>G (p.Leu148Val)
NM_002354.3(EPCAM):c.443T>G (p.Leu148Arg)
NM_002354.3(EPCAM):c.449A>G (p.His150Arg)
NM_002354.3(EPCAM):c.451A>G (p.Lys151Glu)
NM_002354.3(EPCAM):c.452A>G (p.Lys151Arg)
NM_002354.3(EPCAM):c.455C>G (p.Ala152Gly)
NM_002354.3(EPCAM):c.457A>G (p.Arg153Gly)
NM_002354.3(EPCAM):c.460G>C (p.Glu154Gln)
NM_002354.3(EPCAM):c.473A>G (p.Asp158Gly)
NM_002354.3(EPCAM):c.479A>G (p.Lys160Arg)
NM_002354.3(EPCAM):c.47C>G (p.Ala16Gly)
NM_002354.3(EPCAM):c.482G>C (p.Ser161Thr)
NM_002354.3(EPCAM):c.488G>T (p.Arg163Leu)
NM_002354.3(EPCAM):c.496C>T (p.Leu166Phe) rs587780768
NM_002354.3(EPCAM):c.50C>G (p.Thr17Arg)
NM_002354.3(EPCAM):c.517C>A (p.Arg173Ser)
NM_002354.3(EPCAM):c.517C>G (p.Arg173Gly)
NM_002354.3(EPCAM):c.521A>G (p.Tyr174Cys)
NM_002354.3(EPCAM):c.529G>C (p.Asp177His)
NM_002354.3(EPCAM):c.532C>G (p.Pro178Ala)
NM_002354.3(EPCAM):c.545C>G (p.Thr182Arg)
NM_002354.3(EPCAM):c.545C>T (p.Thr182Met)
NM_002354.3(EPCAM):c.547A>T (p.Ser183Cys)
NM_002354.3(EPCAM):c.556T>C (p.Tyr186His)
NM_002354.3(EPCAM):c.565A>C (p.Asn189His)
NM_002354.3(EPCAM):c.566A>G (p.Asn189Ser)
NM_002354.3(EPCAM):c.568G>A (p.Val190Ile)
NM_002354.3(EPCAM):c.575C>T (p.Thr192Ile)
NM_002354.3(EPCAM):c.578T>C (p.Ile193Thr)
NM_002354.3(EPCAM):c.580G>T (p.Asp194Tyr)
NM_002354.3(EPCAM):c.581A>C (p.Asp194Ala)
NM_002354.3(EPCAM):c.582T>G (p.Asp194Glu)
NM_002354.3(EPCAM):c.596C>G (p.Ser199Cys)
NM_002354.3(EPCAM):c.601C>G (p.Gln201Glu) rs878854493
NM_002354.3(EPCAM):c.602A>G (p.Gln201Arg)
NM_002354.3(EPCAM):c.605A>C (p.Lys202Thr)
NM_002354.3(EPCAM):c.605A>G (p.Lys202Arg)
NM_002354.3(EPCAM):c.606A>C (p.Lys202Asn)
NM_002354.3(EPCAM):c.606A>T (p.Lys202Asn)
NM_002354.3(EPCAM):c.607A>G (p.Thr203Ala)
NM_002354.3(EPCAM):c.610C>G (p.Gln204Glu)
NM_002354.3(EPCAM):c.619G>A (p.Val207Met)
NM_002354.3(EPCAM):c.625A>G (p.Ile209Val)
NM_002354.3(EPCAM):c.628G>A (p.Ala210Thr)
NM_002354.3(EPCAM):c.62C>T (p.Ala21Val)
NM_002354.3(EPCAM):c.637G>A (p.Ala213Thr)
NM_002354.3(EPCAM):c.640T>C (p.Tyr214His)
NM_002354.3(EPCAM):c.646T>G (p.Phe216Val)
NM_002354.3(EPCAM):c.64G>A (p.Ala22Thr) rs2103738227
NM_002354.3(EPCAM):c.64G>T (p.Ala22Ser)
NM_002354.3(EPCAM):c.655G>A (p.Asp219Asn)
NM_002354.3(EPCAM):c.658G>T (p.Val220Phe)
NM_002354.3(EPCAM):c.65C>T (p.Ala22Val)
NM_002354.3(EPCAM):c.662A>G (p.Lys221Arg)
NM_002354.3(EPCAM):c.668A>C (p.Glu223Ala)
NM_002354.3(EPCAM):c.668A>G (p.Glu223Gly)
NM_002354.3(EPCAM):c.671C>G (p.Ser224Cys)
NM_002354.3(EPCAM):c.671C>T (p.Ser224Phe)
NM_002354.3(EPCAM):c.676T>C (p.Phe226Leu)
NM_002354.3(EPCAM):c.679C>T (p.His227Tyr)
NM_002354.3(EPCAM):c.67G>A (p.Ala23Thr)
NM_002354.3(EPCAM):c.690A>C (p.Lys230Asn) rs864622463
NM_002354.3(EPCAM):c.691A>G (p.Met231Val)
NM_002354.3(EPCAM):c.692T>G (p.Met231Arg)
NM_002354.3(EPCAM):c.696C>G (p.Asp232Glu)
NM_002354.3(EPCAM):c.697C>G (p.Leu233Val)
NM_002354.3(EPCAM):c.698T>C (p.Leu233Pro)
NM_002354.3(EPCAM):c.700A>G (p.Thr234Ala)
NM_002354.3(EPCAM):c.707A>T (p.Asn236Ile)
NM_002354.3(EPCAM):c.71A>C (p.Gln24Pro)
NM_002354.3(EPCAM):c.71A>G (p.Gln24Arg)
NM_002354.3(EPCAM):c.724C>G (p.Leu242Val)
NM_002354.3(EPCAM):c.730C>T (p.Pro244Ser)
NM_002354.3(EPCAM):c.739A>T (p.Thr247Ser)
NM_002354.3(EPCAM):c.740C>T (p.Thr247Ile)
NM_002354.3(EPCAM):c.743T>C (p.Leu248Ser)
NM_002354.3(EPCAM):c.752A>T (p.Tyr251Phe)
NM_002354.3(EPCAM):c.754G>A (p.Val252Ile)
NM_002354.3(EPCAM):c.754G>C (p.Val252Leu)
NM_002354.3(EPCAM):c.758A>T (p.Asp253Val)
NM_002354.3(EPCAM):c.75A>C (p.Glu25Asp)
NM_002354.3(EPCAM):c.761A>G (p.Glu254Gly)
NM_002354.3(EPCAM):c.761A>T (p.Glu254Val)
NM_002354.3(EPCAM):c.766G>A (p.Ala256Thr)
NM_002354.3(EPCAM):c.767C>G (p.Ala256Gly) rs1558438641
NM_002354.3(EPCAM):c.769C>G (p.Pro257Ala)
NM_002354.3(EPCAM):c.770C>G (p.Pro257Arg)
NM_002354.3(EPCAM):c.772G>A (p.Glu258Lys)
NM_002354.3(EPCAM):c.782T>C (p.Met261Thr)
NM_002354.3(EPCAM):c.785A>G (p.Gln262Arg)
NM_002354.3(EPCAM):c.787G>C (p.Gly263Arg)
NM_002354.3(EPCAM):c.788G>T (p.Gly263Val)
NM_002354.3(EPCAM):c.797C>A (p.Ala266Asp)
NM_002354.3(EPCAM):c.797C>G (p.Ala266Gly)
NM_002354.3(EPCAM):c.797C>T (p.Ala266Val)
NM_002354.3(EPCAM):c.79T>C (p.Cys27Arg)
NM_002354.3(EPCAM):c.7C>A (p.Pro3Thr)
NM_002354.3(EPCAM):c.800G>A (p.Gly267Asp)
NM_002354.3(EPCAM):c.806T>C (p.Ile269Thr)
NM_002354.3(EPCAM):c.80G>A (p.Cys27Tyr)
NM_002354.3(EPCAM):c.817G>A (p.Val273Met)
NM_002354.3(EPCAM):c.823G>C (p.Val275Leu)
NM_002354.3(EPCAM):c.829A>G (p.Ile277Val)
NM_002354.3(EPCAM):c.835G>C (p.Val279Leu) rs878854495
NM_002354.3(EPCAM):c.836T>C (p.Val279Ala)
NM_002354.3(EPCAM):c.841G>A (p.Ala281Thr)
NM_002354.3(EPCAM):c.842C>G (p.Ala281Gly)
NM_002354.3(EPCAM):c.844G>A (p.Gly282Arg)
NM_002354.3(EPCAM):c.845G>A (p.Gly282Glu)
NM_002354.3(EPCAM):c.849T>G (p.Ile283Met)
NM_002354.3(EPCAM):c.850G>T (p.Val284Phe)
NM_002354.3(EPCAM):c.854T>G (p.Val285Gly)
NM_002354.3(EPCAM):c.859G>A (p.Val287Ile)
NM_002354.3(EPCAM):c.865T>G (p.Ser289Ala)
NM_002354.3(EPCAM):c.868A>G (p.Arg290Gly)
NM_002354.3(EPCAM):c.878G>A (p.Arg293Lys) rs786204192
NM_002354.3(EPCAM):c.878G>T (p.Arg293Ile)
NM_002354.3(EPCAM):c.883G>T (p.Ala295Ser)
NM_002354.3(EPCAM):c.888G>C (p.Lys296Asn)
NM_002354.3(EPCAM):c.890A>T (p.Tyr297Phe)
NM_002354.3(EPCAM):c.896A>C (p.Lys299Thr)
NM_002354.3(EPCAM):c.904A>C (p.Ile302Leu)
NM_002354.3(EPCAM):c.904A>G (p.Ile302Val)
NM_002354.3(EPCAM):c.906A>G (p.Ile302Met)
NM_002354.3(EPCAM):c.90A>C (p.Glu30Asp)
NM_002354.3(EPCAM):c.910G>A (p.Glu304Lys)
NM_002354.3(EPCAM):c.911A>T (p.Glu304Val)
NM_002354.3(EPCAM):c.915G>A (p.Met305Ile)
NM_002354.3(EPCAM):c.917G>A (p.Gly306Asp)
NM_002354.3(EPCAM):c.919G>C (p.Glu307Gln)
NM_002354.3(EPCAM):c.922A>T (p.Met308Leu) rs1558441924
NM_002354.3(EPCAM):c.928A>G (p.Arg310Gly)
NM_002354.3(EPCAM):c.931G>C (p.Glu311Gln)
NM_002354.3(EPCAM):c.934C>G (p.Leu312Val)
NM_002354.3(EPCAM):c.935T>A (p.Leu312His)
NM_002354.3(EPCAM):c.940G>A (p.Ala314Thr)
NM_002354.3(EPCAM):c.940G>C (p.Ala314Pro)
NM_002354.3(EPCAM):c.94T>A (p.Tyr32Asn)
NM_002354.3(EPCAM):c.95A>G (p.Tyr32Cys)

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