ClinVar Miner

List of variants in gene EPCAM reported as uncertain significance for Lynch syndrome 1

Included ClinVar conditions (5):
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.859-6A>G rs150307203 0.00191
NM_002354.3(EPCAM):c.458G>C (p.Arg153Thr) rs189732445 0.00020
NM_002354.3(EPCAM):c.93C>G (p.Asn31Lys) rs555329870 0.00016
NM_002354.3(EPCAM):c.730C>G (p.Pro244Ala) rs755757555
NM_002354.3(EPCAM):c.903+5A>G rs199784016

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