ClinVar Miner

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

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Total variants: 9
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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.492-5T>C rs78608315 0.02826
NM_002354.3(EPCAM):c.77-11T>A rs114241106 0.00733
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_002354.2:c.1-45_1-26del
NM_002354.3(EPCAM):c.267G>C (p.Gln89His) rs146480420
NM_002354.3(EPCAM):c.50C>A (p.Thr17Lys) rs116429842

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