ClinVar Miner

List of variants in gene EP300 reported as likely benign by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 11
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HGVS dbSNP
NM_001429.4(EP300):c.1782G>C (p.Thr594=) rs17002307
NM_001429.4(EP300):c.1878+9C>G rs186198699
NM_001429.4(EP300):c.2064A>G (p.Leu688=) rs61756763
NM_001429.4(EP300):c.2756G>A (p.Ser919Asn) rs141403873
NM_001429.4(EP300):c.4482A>G (p.Arg1494=) rs149471059
NM_001429.4(EP300):c.5601G>A (p.Gln1867=) rs1250353355
NM_001429.4(EP300):c.6481A>G (p.Met2161Val) rs188035979
NM_001429.4(EP300):c.6636G>A (p.Gln2212=) rs142673005
NM_001429.4(EP300):c.6729C>T (p.Gly2243=) rs765194008
NM_001429.4(EP300):c.7245G>A (p.Ter2415=) rs587783622
NM_001429.4(EP300):c.865A>G (p.Met289Val) rs2230111

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