ClinVar Miner

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

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_001429.4(EP300):c.2053+8G>T rs6002267 0.96326
NM_001429.4(EP300):c.3183T>A (p.Thr1061=) rs20552 0.59984
NM_001429.4(EP300):c.4618-18C>T rs2076578 0.25729
NM_001429.4(EP300):c.4452+20C>T rs6002271 0.24366
NM_001429.4(EP300):c.4026-17C>A rs2294976 0.07014
NM_001429.4(EP300):c.2380-15T>C rs17002316 0.04125
NM_001429.4(EP300):c.95-16T>C rs5758235 0.04095
NM_001429.4(EP300):c.1168+18G>A rs3818120 0.04073
NM_001429.4(EP300):c.3348G>A (p.Gln1116=) rs20554 0.04022
NM_001429.4(EP300):c.6668A>C (p.Gln2223Pro) rs1046088 0.02418
NM_001429.4(EP300):c.2131+18T>A rs9611506 0.02398
NM_001429.4(EP300):c.5061+9C>T rs73176628 0.02054
NM_001429.4(EP300):c.1283-8T>C rs76827562 0.01914
NM_001429.4(EP300):c.942C>T (p.Gly314=) rs20553 0.01913
NM_001429.4(EP300):c.2499G>A (p.Ser833=) rs35560602 0.01700
NM_001429.4(EP300):c.6372C>T (p.Val2124=) rs34985152 0.01700
NM_001429.4(EP300):c.3426C>T (p.Cys1142=) rs76268515 0.01549
NM_001429.4(EP300):c.1168+7G>C rs181755354 0.00718
NM_001429.4(EP300):c.631G>A (p.Gly211Ser) rs142030651 0.00646
NM_001429.4(EP300):c.2773C>A (p.Pro925Thr) rs148884710 0.00410
NM_001429.4(EP300):c.2091T>G (p.Ser697Arg) rs61756764 0.00379
NM_001429.4(EP300):c.2064A>G (p.Leu688=) rs61756763 0.00282
NM_001429.4(EP300):c.5814G>A (p.Thr1938=) rs112948044 0.00258
NM_001429.4(EP300):c.865A>G (p.Met289Val) rs2230111 0.00258
NM_001429.4(EP300):c.6636G>A (p.Gln2212=) rs142673005 0.00225
NM_001429.4(EP300):c.5259C>T (p.Cys1753=) rs148040990 0.00172
NM_001429.4(EP300):c.2576T>C (p.Ile859Thr) rs145714752 0.00072
NM_001429.4(EP300):c.4026-7T>C rs187388966 0.00012
NM_001429.4(EP300):c.6729C>T (p.Gly2243=) rs765194008 0.00008
NM_001429.4(EP300):c.952C>G (p.Pro318Ala) rs762647727 0.00003
NM_001429.4(EP300):c.2609C>T (p.Pro870Leu) rs540935486 0.00001
NM_001429.4(EP300):c.*10GTA[1] rs35508493
NM_001429.4(EP300):c.3143-4del rs757931697
NM_001429.4(EP300):c.3143-4dup rs757931697
NM_001429.4(EP300):c.3354C>T (p.Val1118=) rs11704815
NM_001429.4(EP300):c.5633C>A (p.Thr1878Asn) rs1484157418
NM_001429.4(EP300):c.5832C>G (p.His1944Gln) rs142885571
NM_001429.4(EP300):c.730-18_730-9del rs61120041
NM_001429.4(EP300):c.907-17_907-8del rs797045561

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