ClinVar Miner

List of variants in gene EPCAM reported as likely benign for Lynch syndrome

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_002354.2(EPCAM):c.*118T>C rs1421
NM_002354.2(EPCAM):c.*265A>T rs11554292
NM_002354.2(EPCAM):c.*36G>A rs77204711
NM_002354.2(EPCAM):c.-247G>C rs371271353
NM_002354.2(EPCAM):c.-280G>C rs545339093
NM_002354.2(EPCAM):c.147T>C (p.Thr49=) rs190508047
NM_002354.2(EPCAM):c.267G>C (p.Gln89His) rs146480420
NM_002354.2(EPCAM):c.344T>C (p.Met115Thr) rs1126497
NM_002354.2(EPCAM):c.390C>T (p.Asp130=) rs863224389
NM_002354.2(EPCAM):c.492-5T>C rs78608315
NM_002354.2(EPCAM):c.50C>A (p.Thr17Lys) rs116429842
NM_002354.2(EPCAM):c.515C>T (p.Thr172Met) rs74531854
NM_002354.2(EPCAM):c.597T>C (p.Ser199=) rs587780770
NM_002354.2(EPCAM):c.859-6A>C rs150307203
NM_002354.2(EPCAM):c.859-6A>G rs150307203
NM_002354.2(EPCAM):c.859-7C>T rs72882786
NM_002354.2(EPCAM):c.904-12T>C rs62139669

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