ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 166
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001429.4(EP300):c.2380-154G>C rs4479527 0.99998
NM_001429.4(EP300):c.4452+293C>T rs79540 0.99682
NM_001429.4(EP300):c.2053+8G>T rs6002267 0.96326
NM_001429.4(EP300):c.95-97G>T rs2144342 0.60050
NM_001429.4(EP300):c.3143-45C>T rs4822011 0.60005
NM_001429.4(EP300):c.3183T>A (p.Thr1061=) rs20552 0.59984
NM_001429.4(EP300):c.4452+248A>G rs9607779 0.58813
NM_001429.4(EP300):c.4779+283T>C rs2076581 0.58074
NM_001429.4(EP300):c.4453-23T>C rs2076577 0.51146
NM_001429.4(EP300):c.1168+185A>G rs738632 0.51017
NM_001429.4(EP300):c.4452+153C>T rs12160751 0.27288
NM_001429.4(EP300):c.4173-222A>G rs5751058 0.26292
NM_001429.4(EP300):c.4618-18C>T rs2076578 0.25729
NM_001429.4(EP300):c.4779+99G>A rs2076580 0.25634
NM_001429.4(EP300):c.3875-166T>C rs2057070 0.24494
NM_001429.4(EP300):c.4286+207A>G rs9611509 0.24422
NM_001429.4(EP300):c.730-311G>A rs8137709 0.07396
NM_001429.4(EP300):c.3671+251dup rs35715259 0.07371
NM_001429.4(EP300):c.2379+113T>A rs5758247 0.07076
NM_001429.4(EP300):c.2241+217C>T rs35023864 0.07015
NM_001429.4(EP300):c.4026-17C>A rs2294976 0.07014
NM_001429.4(EP300):c.2380-142G>A rs117597170 0.05022
NM_001429.4(EP300):c.906+99A>G rs12167662 0.04940
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.2242-83G>A rs2273227 0.04078
NM_001429.4(EP300):c.2132-120G>A rs147996339 0.04076
NM_001429.4(EP300):c.1168+18G>A rs3818120 0.04073
NM_001429.4(EP300):c.2241+33C>G rs17002314 0.04066
NM_001429.4(EP300):c.3590+186C>T rs79458245 0.04055
NM_001429.4(EP300):c.3348G>A (p.Gln1116=) rs20554 0.04022
NM_001429.4(EP300):c.4453-318G>A rs75278256 0.03521
NM_001429.4(EP300):c.1528+66T>C rs12170811 0.03033
NM_001429.4(EP300):c.730-113C>G rs9619941 0.03028
NM_001429.4(EP300):c.1623-302T>C rs7285761 0.02564
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.1282+240C>A rs75829147 0.01962
NM_001429.4(EP300):c.906+187A>G rs78496424 0.01918
NM_001429.4(EP300):c.1283-8T>C rs76827562 0.01914
NM_001429.4(EP300):c.1879-150A>G rs12330117 0.01913
NM_001429.4(EP300):c.942C>T (p.Gly314=) rs20553 0.01913
NM_001429.4(EP300):c.2817+174T>G rs9623334 0.01911
NM_001429.4(EP300):c.3501+270T>C rs730811 0.01910
NM_001429.4(EP300):c.1878+59T>C rs9619943 0.01908
NM_001429.4(EP300):c.2053+42A>G rs116108629 0.01904
NM_001429.4(EP300):c.3672-196T>C rs9623340 0.01903
NM_001429.4(EP300):c.2132-256A>T rs144442908 0.01899
NM_001429.4(EP300):c.3728+212T>G rs7291735 0.01887
NM_001429.4(EP300):c.3261+172G>A rs114579442 0.01880
NM_001429.4(EP300):c.*137C>T rs113567138 0.01879
NM_001429.4(EP300):c.3672-291A>G rs7285973 0.01872
NM_001429.4(EP300):c.2379+114A>T rs112074017 0.01716
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.4286+33T>C rs12169381 0.01619
NM_001429.4(EP300):c.3426C>T (p.Cys1142=) rs76268515 0.01549
NM_001429.4(EP300):c.2019T>C (p.Pro673=) rs2230110 0.01054
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.3591-50G>A rs188363795 0.00347
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.5061+34C>G rs77540024 0.00253
NM_001429.4(EP300):c.6636G>A (p.Gln2212=) rs142673005 0.00225
NM_001429.4(EP300):c.4286+29T>C rs566214668 0.00181
NM_001429.4(EP300):c.4780-41C>T rs185116512 0.00177
NM_001429.4(EP300):c.5259C>T (p.Cys1753=) rs148040990 0.00172
NM_001429.4(EP300):c.678C>G (p.Gly226=) rs147244947 0.00158
NM_001429.4(EP300):c.4311A>C (p.Ala1437=) rs150941761 0.00150
NM_001429.4(EP300):c.4173-39A>C rs200251568 0.00146
NM_001429.4(EP300):c.6210G>A (p.Val2070=) rs11912899 0.00142
NM_001429.4(EP300):c.1878+9C>G rs186198699 0.00138
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.1686A>C (p.Pro562=) rs144993798 0.00111
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.4286+23T>C rs142488264 0.00093
NM_001429.4(EP300):c.6675G>A (p.Gln2225=) rs147880144 0.00092
NM_001429.4(EP300):c.4779+18A>G rs146245982 0.00084
NM_001429.4(EP300):c.3143-9T>C rs199773872 0.00083
NM_001429.4(EP300):c.2054-3T>C rs375287913 0.00081
NM_001429.4(EP300):c.2656C>T (p.Pro886Ser) rs148308496 0.00074
NM_001429.4(EP300):c.2576T>C (p.Ile859Thr) rs145714752 0.00072
NM_001429.4(EP300):c.4599C>G (p.Thr1533=) rs143885808 0.00068
NM_001429.4(EP300):c.5271C>T (p.Ser1757=) rs138917060 0.00068
NM_001429.4(EP300):c.4618-51A>G rs375936936 0.00056
NM_001429.4(EP300):c.316A>G (p.Ser106Gly) rs150245975 0.00054
NM_001429.4(EP300):c.2380-36T>C rs140011569 0.00051
NM_001429.4(EP300):c.5364C>T (p.Leu1788=) rs143551315 0.00049
NM_001429.4(EP300):c.2568A>G (p.Ala856=) rs145037345 0.00045
NM_001429.4(EP300):c.6417C>T (p.Gly2139=) rs111315183 0.00045
NM_001429.4(EP300):c.5061+36C>T rs376408346 0.00042
NM_001429.4(EP300):c.739A>G (p.Met247Val) rs147583157 0.00041
NM_001429.4(EP300):c.4287-50T>G rs201416577 0.00038
NM_001429.4(EP300):c.6951G>A (p.Arg2317=) rs139551099 0.00035
NM_001429.4(EP300):c.2131+45G>A rs191844376 0.00033
NM_001429.4(EP300):c.2380-18T>C rs189468196 0.00028
NM_001429.4(EP300):c.3501+43A>G rs374709084 0.00025
NM_001429.4(EP300):c.5172C>A (p.Thr1724=) rs142330184 0.00025
NM_001429.4(EP300):c.2110C>T (p.Pro704Ser) rs149858781 0.00022
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.1104C>T (p.His368=) rs78045947 0.00018
NM_001429.4(EP300):c.4752A>G (p.Leu1584=) rs146147293 0.00016
NM_001429.4(EP300):c.5604G>A (p.Thr1868=) rs200795114 0.00015
NM_001429.4(EP300):c.730-44A>G rs572868943 0.00015
NM_001429.4(EP300):c.1761-34A>T rs568223812 0.00014
NM_001429.4(EP300):c.3537C>A (p.Gly1179=) rs148939960 0.00014
NM_001429.4(EP300):c.1782G>C (p.Thr594=) rs17002307 0.00013
NM_001429.4(EP300):c.3502-13G>A rs547213630 0.00011
NM_001429.4(EP300):c.5461C>A (p.Arg1821=) rs780579609 0.00011
NM_001429.4(EP300):c.1443G>A (p.Pro481=) rs374768898 0.00009
NM_001429.4(EP300):c.3162A>G (p.Leu1054=) rs139758629 0.00009
NM_001429.4(EP300):c.4286+22C>T rs770995695 0.00009
NM_001429.4(EP300):c.5061+50T>C rs368191882 0.00009
NM_001429.4(EP300):c.6729C>T (p.Gly2243=) rs765194008 0.00008
NM_001429.4(EP300):c.6934C>T (p.Pro2312Ser) rs137935821 0.00008
NM_001429.4(EP300):c.5061+37C>T rs377096214 0.00007
NM_001429.4(EP300):c.5346C>T (p.Cys1782=) rs747513510 0.00006
NM_001429.4(EP300):c.6912C>T (p.Ser2304=) rs113329190 0.00006
NM_001429.4(EP300):c.2572A>G (p.Thr858Ala) rs201030855 0.00003
NM_001429.4(EP300):c.2594C>T (p.Thr865Ile) rs754168978 0.00003
NM_001429.4(EP300):c.1341A>G (p.Gln447=) rs780940794 0.00002
NM_001429.4(EP300):c.2334A>G (p.Thr778=) rs374281264 0.00002
NM_001429.4(EP300):c.579C>T (p.Asn193=) rs376004661 0.00002
NM_001429.4(EP300):c.907-10T>C rs772628747 0.00002
NM_001429.4(EP300):c.*24G>A rs575190212 0.00001
NM_001429.4(EP300):c.2348C>T (p.Ala783Val) rs755619355 0.00001
NM_001429.4(EP300):c.2609C>T (p.Pro870Leu) rs540935486 0.00001
NM_001429.4(EP300):c.3502-9C>A rs752128445 0.00001
NM_001429.4(EP300):c.5709C>T (p.Gly1903=) rs200728751 0.00001
NM_001429.4(EP300):c.*10GTA[1] rs35508493
NM_001429.4(EP300):c.*47_*49del
NM_001429.4(EP300):c.1282+267dup rs11388493
NM_001429.4(EP300):c.1283-16C>T rs200548363
NM_001429.4(EP300):c.1878+86A>T rs9619944
NM_001429.4(EP300):c.2132-328G>T rs12167653
NM_001429.4(EP300):c.2242-4del rs747710183
NM_001429.4(EP300):c.2242-4dup rs747710183
NM_001429.4(EP300):c.2379+154_2379+156del rs67744457
NM_001429.4(EP300):c.3261+126del rs878898787
NM_001429.4(EP300):c.3261+126dup rs878898787
NM_001429.4(EP300):c.3261+209G>T rs9653841
NM_001429.4(EP300):c.3262-247T>G rs66776572
NM_001429.4(EP300):c.3354C>T (p.Val1118=) rs11704815
NM_001429.4(EP300):c.3591-212dup rs35492332
NM_001429.4(EP300):c.3624C>A (p.Ile1208=) rs143660871
NM_001429.4(EP300):c.4452+102_4452+108del rs35506286
NM_001429.4(EP300):c.4452+106_4452+108dup rs35506286
NM_001429.4(EP300):c.4452+107_4452+108dup rs35506286
NM_001429.4(EP300):c.4452+108del rs35506286
NM_001429.4(EP300):c.4452+108dup rs35506286
NM_001429.4(EP300):c.4798C>G (p.Leu1600Val) rs140154690
NM_001429.4(EP300):c.532T>C (p.Leu178=)
NM_001429.4(EP300):c.5669C>G (p.Thr1890Ser) rs146165770
NM_001429.4(EP300):c.6627_6638del (p.Asn2209_Gln2213delinsLys) rs587778256
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del) rs533875300
NM_001429.4(EP300):c.730-151T>C rs5758240
NM_001429.4(EP300):c.730-18_730-9del rs61120041
NM_001429.4(EP300):c.94+260G>C rs146487972

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.