ClinVar Miner

Variants in gene EPCAM with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 14
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HGVS dbSNP gnomAD frequency
NM_002354.3(EPCAM):c.904-12T>C rs62139669 0.03374
NM_002354.3(EPCAM):c.492-5T>C rs78608315 0.02826
NM_002354.3(EPCAM):c.859-7C>T rs72882786 0.02290
NM_002354.2(EPCAM):c.*265A>T rs11554292 0.01658
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_002354.3(EPCAM):c.5C>T (p.Ala2Val) rs201402370 0.00192
NM_002354.3(EPCAM):c.831A>G (p.Ile277Met) rs115283528 0.00135
NM_002354.3(EPCAM):c.159A>C (p.Ala53=) rs150562209 0.00105
NM_002354.3(EPCAM):c.458G>C (p.Arg153Thr) rs189732445 0.00020
NM_002354.3(EPCAM):c.63C>G (p.Ala21=) rs549177672 0.00019
NM_002354.3(EPCAM):c.76+6G>T rs774722931 0.00013
NM_002354.3(EPCAM):c.106G>A (p.Val36Ile) rs771315207 0.00006
NM_002354.3(EPCAM):c.267G>C (p.Gln89His) rs146480420

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