ClinVar Miner

List of variants in gene EPCAM reported as likely benign by Invitae

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Gene type:
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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_002354.3(EPCAM):c.487C>T (p.Arg163Trp) rs148725106 0.00085
NM_002354.3(EPCAM):c.304A>G (p.Ser102Gly) rs34474955 0.00041
NM_002354.3(EPCAM):c.93C>G (p.Asn31Lys) rs555329870 0.00016
NM_002354.3(EPCAM):c.6G>T (p.Ala2=) rs374563131 0.00009
NM_002354.3(EPCAM):c.171C>A (p.Val57=) rs369992289 0.00004
NM_002354.3(EPCAM):c.342C>T (p.Ser114=) rs200495968 0.00004
NM_002354.3(EPCAM):c.501G>A (p.Gln167=) rs754990754 0.00004
NM_002354.3(EPCAM):c.141G>A (p.Gln47=) rs186094931 0.00003
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.491+10A>G rs751317067 0.00002
NM_002354.3(EPCAM):c.904-7G>C rs753816014 0.00002
NM_002354.3(EPCAM):c.165T>C (p.Asn55=) rs201645229 0.00001
NM_002354.3(EPCAM):c.21C>T (p.Leu7=) rs878854487 0.00001
NM_002354.3(EPCAM):c.297C>T (p.Cys99=) rs143264703 0.00001
NM_002354.3(EPCAM):c.903+7G>T rs756176396 0.00001
NM_002354.3(EPCAM):c.904-6T>C rs747578954 0.00001
NM_002354.3(EPCAM):c.921G>A (p.Glu307=) rs878854497 0.00001
NM_002354.3(EPCAM):c.185-9C>A rs863224388
NM_002354.3(EPCAM):c.267G>A (p.Gln89=) rs146480420
NM_002354.3(EPCAM):c.288T>C (p.Asp96=) rs864622181
NM_002354.3(EPCAM):c.390C>T (p.Asp130=) rs863224389
NM_002354.3(EPCAM):c.459A>G (p.Arg153=) rs878854489
NM_002354.3(EPCAM):c.555+7T>A rs864622648
NM_002354.3(EPCAM):c.556-14A>C rs376155665
NM_002354.3(EPCAM):c.558T>C (p.Tyr186=) rs878854492
NM_002354.3(EPCAM):c.597T>C (p.Ser199=) rs587780770
NM_002354.3(EPCAM):c.729T>C (p.Asp243=) rs864622420
NM_002354.3(EPCAM):c.762A>G (p.Glu254=) rs863224390
NM_002354.3(EPCAM):c.828G>A (p.Val276=) rs1573400459
NM_002354.3(EPCAM):c.84C>G (p.Val28=) rs1056538153
NM_002354.3(EPCAM):c.859-6A>C rs150307203
NM_002354.3(EPCAM):c.903+9A>T rs863224391
NM_002354.3(EPCAM):c.99G>A (p.Lys33=) rs878854498
NM_002354.3(EPCAM):c.9C>A (p.Pro3=) rs532872105

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