ClinVar Miner

List of variants in gene EPCAM reported as pathogenic for Lynch syndrome

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NC_000002.12:g.(?_47377014)_(47377077_?)del
NC_000002.12:g.(?_47378953)_(47387028_?)del
NM_002354.2(EPCAM):c.133C>T (p.Gln45Ter) rs878854485
NM_002354.2(EPCAM):c.523C>T (p.Gln175Ter) rs878854491
NM_002354.2(EPCAM):c.556-14A>G rs376155665
NM_002354.2(EPCAM):c.859-1462_*1999del
NM_002354.2(EPCAM):c.859-?_*415del
NM_002354.2(EPCAM):c.904-?_945+?del
NR_030286.1(MIR559):n.278_23134del

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