ClinVar Miner

List of variants in gene EP300 reported by PreventionGenetics

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Total variants: 18
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HGVS dbSNP
NM_001429.4(EP300):c.*10_*12GTA[1] rs35508493
NM_001429.4(EP300):c.1168+18G>A rs3818120
NM_001429.4(EP300):c.2053+8G>T rs6002267
NM_001429.4(EP300):c.2131+18T>A rs9611506
NM_001429.4(EP300):c.2359G>A (p.Gly787Ser) rs564786569
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.4026-17C>A rs2294976
NM_001429.4(EP300):c.4452+20C>T rs6002271
NM_001429.4(EP300):c.4618-18C>T rs2076578
NM_001429.4(EP300):c.5061+9C>T rs73176628
NM_001429.4(EP300):c.5440C>A (p.Arg1814=) rs757325753
NM_001429.4(EP300):c.6660A>G (p.Pro2220=) rs886038484
NM_001429.4(EP300):c.6668A>C (p.Gln2223Pro) rs1046088
NM_001429.4(EP300):c.730-18_730-9del rs61120041
NM_001429.4(EP300):c.95-16T>C rs5758235

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