ClinVar Miner

List of variants in gene EP300 reported by Diagnostic Laboratory, Strasbourg University Hospital

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Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001429.3(EP300):c.3857A>G rs1555910821
NM_001429.4(EP300):c.3901T>G (p.Phe1301Val) rs766262045
NM_001429.4(EP300):c.4484T>A (p.Leu1495Ter) rs2059176668

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