ClinVar Miner

List of variants in gene EP300 reported by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 64
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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.6668A>C (p.Gln2223Pro) rs1046088 0.02418
NM_001429.4(EP300):c.2131+18T>A rs9611506 0.02398
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.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.5061+10G>A rs78432056 0.00135
NM_001429.4(EP300):c.5147G>C (p.Ser1716Thr) rs147676363 0.00112
NM_001429.4(EP300):c.6390G>A (p.Met2130Ile) rs147973806 0.00101
NM_001429.4(EP300):c.6969C>G (p.Pro2323=) rs111489369 0.00100
NM_001429.4(EP300):c.2576T>C (p.Ile859Thr) rs145714752 0.00072
NM_001429.4(EP300):c.739A>G (p.Met247Val) rs147583157 0.00041
NM_001429.4(EP300):c.4724A>G (p.Asn1575Ser) rs144547088 0.00026
NM_001429.4(EP300):c.5172C>A (p.Thr1724=) rs142330184 0.00025
NM_001429.4(EP300):c.324C>T (p.Ala108=) rs138876937 0.00020
NM_001429.4(EP300):c.2240C>T (p.Pro747Leu) rs193026103 0.00019
NM_001429.4(EP300):c.2242-8T>C rs199931034 0.00018
NM_001429.4(EP300):c.5711A>C (p.Gln1904Pro) rs140187237 0.00016
NM_001429.4(EP300):c.2787A>G (p.Ala929=) rs143690368 0.00012
NM_001429.4(EP300):c.4026-7T>C rs187388966 0.00012
NM_001429.4(EP300):c.1572G>A (p.Thr524=) rs746398873 0.00009
NM_001429.4(EP300):c.3591-6C>T rs368437789 0.00009
NM_001429.4(EP300):c.6315C>T (p.Gly2105=) rs528866215 0.00009
NM_001429.4(EP300):c.6729C>T (p.Gly2243=) rs765194008 0.00008
NM_001429.4(EP300):c.5957C>T (p.Pro1986Leu) rs144626200 0.00006
NM_001429.4(EP300):c.2419A>G (p.Ile807Val) rs201054979 0.00004
NM_001429.4(EP300):c.4347T>C (p.His1449=) rs137986257 0.00004
NM_001429.4(EP300):c.5683C>T (p.Pro1895Ser) rs749979249 0.00004
NM_001429.4(EP300):c.103T>G (p.Ser35Ala) rs546292445 0.00003
NM_001429.4(EP300):c.2252A>G (p.Tyr751Cys) rs755815528 0.00002
NM_001429.4(EP300):c.574A>T (p.Met192Leu) rs771650739 0.00002
NM_001429.4(EP300):c.5914A>G (p.Met1972Val) rs373725137 0.00002
NM_001429.4(EP300):c.1453C>A (p.Gln485Lys) rs772407988 0.00001
NM_001429.4(EP300):c.1710G>A (p.Gln570=) rs886043092 0.00001
NM_001429.4(EP300):c.2005A>G (p.Met669Val) rs749541256 0.00001
NM_001429.4(EP300):c.3330G>T (p.Gln1110His) rs374163115 0.00001
NM_001429.4(EP300):c.471A>G (p.Pro157=) rs770598337 0.00001
NM_001429.4(EP300):c.*10GTA[1] rs35508493
NM_001429.4(EP300):c.1442C>T (p.Pro481Leu) rs533244094
NM_001429.4(EP300):c.1573C>T (p.Pro525Ser) rs886042427
NM_001429.4(EP300):c.2540dup (p.Ser848fs) rs1569107391
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.3671+5_3671+8del rs886042977
NM_001429.4(EP300):c.4065C>A (p.Tyr1355Ter) rs886043598
NM_001429.4(EP300):c.5572C>G (p.Pro1858Ala) rs398123610
NM_001429.4(EP300):c.569A>G (p.Gln190Arg) rs199653514
NM_001429.4(EP300):c.6713A>G (p.Asn2238Ser) rs767335677
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del) rs533875300
NM_001429.4(EP300):c.7221A>G (p.Ser2407=) rs964396023
NM_001429.4(EP300):c.730-18_730-9del rs61120041

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