ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_001429.4(EP300):c.*10_*12GTA[1] rs35508493
NM_001429.4(EP300):c.1168+7G>C rs181755354
NM_001429.4(EP300):c.2053+8G>T rs6002267
NM_001429.4(EP300):c.2380-15T>C rs17002316
NM_001429.4(EP300):c.2989A>G (p.Ile997Val) rs20551
NM_001429.4(EP300):c.3183T>A (p.Thr1061=) rs20552
NM_001429.4(EP300):c.3348G>A (p.Gln1116=) rs20554
NM_001429.4(EP300):c.3426C>T (p.Cys1142=) rs76268515
NM_001429.4(EP300):c.5061+9C>T rs73176628
NM_001429.4(EP300):c.631G>A (p.Gly211Ser) rs142030651
NM_001429.4(EP300):c.6372C>T (p.Val2124=) rs34985152
NM_001429.4(EP300):c.907-17_907-8del rs797045561
NM_001429.4(EP300):c.942C>T (p.Gly314=) rs20553

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