ClinVar Miner

List of variants in gene EP300 reported as benign for not specified

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Total variants: 37
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HGVS dbSNP
NM_001429.3(EP300):c.*13_*15delGTA rs35508493
NM_001429.3(EP300):c.1168+18G>A rs3818120
NM_001429.3(EP300):c.1168+7G>C rs181755354
NM_001429.3(EP300):c.1283-8T>C rs76827562
NM_001429.3(EP300):c.2053+8G>T rs6002267
NM_001429.3(EP300):c.2064A>G (p.Leu688=) rs61756763
NM_001429.3(EP300):c.2091T>G (p.Ser697Arg) rs61756764
NM_001429.3(EP300):c.2131+18T>A rs9611506
NM_001429.3(EP300):c.2380-15T>C rs17002316
NM_001429.3(EP300):c.2499G>A (p.Ser833=) rs35560602
NM_001429.3(EP300):c.2576T>C (p.Ile859Thr) rs145714752
NM_001429.3(EP300):c.2773C>A (p.Pro925Thr) rs148884710
NM_001429.3(EP300):c.2989A>G (p.Ile997Val) rs20551
NM_001429.3(EP300):c.3030C>G (p.Thr1010=) rs148414681
NM_001429.3(EP300):c.3143-4delT rs757931697
NM_001429.3(EP300):c.3143-4dupT rs757931697
NM_001429.3(EP300):c.3183T>A (p.Thr1061=) rs20552
NM_001429.3(EP300):c.3348G>A (p.Gln1116=) rs20554
NM_001429.3(EP300):c.3354C>T (p.Val1118=) rs11704815
NM_001429.3(EP300):c.3426C>T (p.Cys1142=) rs76268515
NM_001429.3(EP300):c.4026-17C>A rs2294976
NM_001429.3(EP300):c.4026-7T>C rs187388966
NM_001429.3(EP300):c.4452+20C>T rs6002271
NM_001429.3(EP300):c.4618-18C>T rs2076578
NM_001429.3(EP300):c.5061+9C>T rs73176628
NM_001429.3(EP300):c.5259C>T (p.Cys1753=) rs148040990
NM_001429.3(EP300):c.5814G>A (p.Thr1938=) rs112948044
NM_001429.3(EP300):c.631G>A (p.Gly211Ser) rs142030651
NM_001429.3(EP300):c.6372C>T (p.Val2124=) rs34985152
NM_001429.3(EP300):c.6636G>A (p.Gln2212=) rs142673005
NM_001429.3(EP300):c.6668A>C (p.Gln2223Pro) rs1046088
NM_001429.3(EP300):c.6729C>T (p.Gly2243=) rs765194008
NM_001429.3(EP300):c.730-18_730-9delTTTGTTTCTT rs61120041
NM_001429.3(EP300):c.907-18_907-9del rs797045561
NM_001429.3(EP300):c.942C>T (p.Gly314=) rs20553
NM_001429.3(EP300):c.95-16T>C rs5758235
NM_001429.3(EP300):c.952C>G (p.Pro318Ala) rs762647727

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