ClinVar Miner

List of variants in gene EPCAM reported by Genome Diagnostics Laboratory, Amsterdam University Medical Center

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_002354.3(EPCAM):c.492-5T>C rs78608315 0.02826
NM_002354.3(EPCAM):c.859-7C>T rs72882786 0.02124
NM_002354.3(EPCAM):c.77-11T>A rs114241106 0.00733
NM_002354.3(EPCAM):c.859-6A>G rs150307203 0.00191
NM_002354.3(EPCAM):c.267G>C (p.Gln89His) rs146480420

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