ClinVar Miner

List of variants in gene EP300 reported as pathogenic by Daryl Scott Lab, Baylor College of Medicine

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001429.4(EP300):c.2225del (p.Pro742fs) rs2059021664
NM_001429.4(EP300):c.2660C>T (p.Thr887Ile) rs953108559

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