ClinVar Miner

List of variants in gene EP300 reported as likely benign for Intellectual disability

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001429.4(EP300):c.2091T>G (p.Ser697Arg) rs61756764 0.00379
NM_001429.4(EP300):c.5711A>C (p.Gln1904Pro) rs140187237 0.00016
NM_001429.4(EP300):c.4214G>A (p.Arg1405His) rs138855106 0.00006
NM_001429.4(EP300):c.781C>T (p.Pro261Ser) rs753462821 0.00004
NM_001429.4(EP300):c.902A>G (p.Asn301Ser) rs778066441 0.00004
NM_001429.4(EP300):c.650A>G (p.Asn217Ser) rs139130083 0.00001
NM_001429.4(EP300):c.5987G>C (p.Ser1996Thr) rs2059210090

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