List of variants in gene EPCAM reported as likely benign for colorectal neoplasm

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 20

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HGVS	dbSNP	gnomAD frequency
NM_002354.3(EPCAM):c.491+19A>T	rs114475602	0.00306
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.342C>T (p.Ser114=)	rs200495968	0.00004
NM_002354.3(EPCAM):c.501G>A (p.Gln167=)	rs754990754	0.00004
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.165T>C (p.Asn55=)	rs201645229	0.00001
NM_002354.3(EPCAM):c.267G>C (p.Gln89His)	rs146480420
NM_002354.3(EPCAM):c.288T>C (p.Asp96=)	rs864622181
NM_002354.3(EPCAM):c.459A>G (p.Arg153=)	rs878854489
NM_002354.3(EPCAM):c.555+7T>A	rs864622648
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.859-6A>C	rs150307203
NM_002354.3(EPCAM):c.99G>A (p.Lys33=)	rs878854498

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