ClinVar Miner

List of variants in gene EPCAM reported by Mendelics

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Gene type:
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_002354.2(EPCAM):c.*362A>G rs539981178 0.00039
NM_002354.3(EPCAM):c.38T>C (p.Leu13Pro) rs776646187 0.00002
NM_002354.3(EPCAM):c.76+21G>C rs762123721 0.00001
NC_000002.12:g.47387047CTT[2] rs151274680
NC_000002.12:g.47387064C>T rs796191687
NC_000002.12:g.47387076_47387080dup rs565249366
NC_000002.12:g.47387079_47387080dup rs565249366
NC_000002.12:g.47387080dup rs565249366
NM_002354.3(EPCAM):c.345G>C (p.Met115Ile) rs115212523
NM_002354.3(EPCAM):c.658-1G>T rs1573400213

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