ClinVar Miner

List of variants in gene EP300 studied for Rubinstein-Taybi syndrome 1

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Gene type:
ClinVar version:
Total variants: 149
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HGVS dbSNP
NM_001429.4(EP300):c.*1083_*1085del rs561433394
NM_001429.4(EP300):c.*10_*12GTA[1] rs35508493
NM_001429.4(EP300):c.*137C>T rs113567138
NM_001429.4(EP300):c.*138G>A rs75494658
NM_001429.4(EP300):c.*298A>G rs552755933
NM_001429.4(EP300):c.*340dup rs561569141
NM_001429.4(EP300):c.*352C>T rs577686550
NM_001429.4(EP300):c.*40_*44del rs751376755
NM_001429.4(EP300):c.*52C>G rs542406106
NM_001429.4(EP300):c.*552G>A rs886057574
NM_001429.4(EP300):c.*559A>G rs886057575
NM_001429.4(EP300):c.*568A>G rs533563820
NM_001429.4(EP300):c.*591_*592dup rs60283061
NM_001429.4(EP300):c.*592del rs60283061
NM_001429.4(EP300):c.*592dup rs60283061
NM_001429.4(EP300):c.*745del rs532524940
NM_001429.4(EP300):c.*753T>C rs886057576
NM_001429.4(EP300):c.*785_*786del rs886057577
NM_001429.4(EP300):c.*815A>C rs572918594
NM_001429.4(EP300):c.*844G>A rs532999218
NM_001429.4(EP300):c.*921dup rs1161532977
NM_001429.4(EP300):c.*922A>C rs146984033
NM_001429.4(EP300):c.*922_*930delinsC rs1555912614
NM_001429.4(EP300):c.*922_*930delinsCCC rs1555912614
NM_001429.4(EP300):c.*922_*932delinsC rs886057580
NM_001429.4(EP300):c.*922_*932delinsCCC rs886057580
NM_001429.4(EP300):c.*922_*938delinsC rs886057581
NM_001429.4(EP300):c.*922_*942delinsC rs1555912616
NM_001429.4(EP300):c.*922_*942delinsCC rs1555912616
NM_001429.4(EP300):c.*924T>A rs149250603
NM_001429.4(EP300):c.*924T>C rs149250603
NM_001429.4(EP300):c.*926A>C rs140429533
NM_001429.4(EP300):c.*926_*927AC[18] rs59721178
NM_001429.4(EP300):c.*926_*927AC[20] rs59721178
NM_001429.4(EP300):c.*926_*927AC[22] rs59721178
NM_001429.4(EP300):c.*926_*927AC[23] rs59721178
NM_001429.4(EP300):c.*928A>C rs142198417
NM_001429.4(EP300):c.*930A>C rs879634387
NM_001429.4(EP300):c.*932A>C rs886057585
NM_001429.4(EP300):c.*938A>C rs886057586
NM_001429.4(EP300):c.*942A>C rs754018515
NM_001429.4(EP300):c.*968T>A rs3210590
NM_001429.4(EP300):c.-133A>G rs116913445
NM_001429.4(EP300):c.-139A>G rs886057554
NM_001429.4(EP300):c.-149G>A rs553861147
NM_001429.4(EP300):c.-192C>T rs763177046
NM_001429.4(EP300):c.-212C>T rs886057553
NM_001429.4(EP300):c.-237C>T rs886057552
NM_001429.4(EP300):c.-238T>C rs886057551
NM_001429.4(EP300):c.-363A>C rs886057550
NM_001429.4(EP300):c.102C>G (p.Gly34=) rs750031887
NM_001429.4(EP300):c.1168+7G>C rs181755354
NM_001429.4(EP300):c.1283-8T>C rs76827562
NM_001429.4(EP300):c.1302C>T (p.Pro434=) rs199901345
NM_001429.4(EP300):c.1516A>G (p.Met506Val) rs886057556
NM_001429.4(EP300):c.1519A>G (p.Ser507Gly) rs146242251
NM_001429.4(EP300):c.1528+15T>C rs200147263
NM_001429.4(EP300):c.1540A>G (p.Met514Val) rs765266179
NM_001429.4(EP300):c.157T>C (p.Leu53=) rs147566983
NM_001429.4(EP300):c.1782G>C (p.Thr594=) rs17002307
NM_001429.4(EP300):c.1784C>T (p.Pro595Leu) rs886057557
NM_001429.4(EP300):c.1878+9C>G rs186198699
NM_001429.4(EP300):c.1990A>G (p.Met664Val) rs529145180
NM_001429.4(EP300):c.2053+8G>T rs6002267
NM_001429.4(EP300):c.2064A>G (p.Leu688=) rs61756763
NM_001429.4(EP300):c.2091T>G (p.Ser697Arg) rs61756764
NM_001429.4(EP300):c.2131+13A>T rs886057558
NM_001429.4(EP300):c.2174T>C (p.Ile725Thr) rs375822328
NM_001429.4(EP300):c.2240C>T (p.Pro747Leu) rs193026103
NM_001429.4(EP300):c.2242-6_2242-4del rs747710183
NM_001429.4(EP300):c.2380-15T>C rs17002316
NM_001429.4(EP300):c.2393G>A (p.Ser798Asn) rs781326261
NM_001429.4(EP300):c.2499G>A (p.Ser833=) rs35560602
NM_001429.4(EP300):c.2536C>T (p.Pro846Ser) rs886057560
NM_001429.4(EP300):c.2576T>C (p.Ile859Thr) rs145714752
NM_001429.4(EP300):c.2580A>G (p.Pro860=) rs752536439
NM_001429.4(EP300):c.2609C>T (p.Pro870Leu) rs540935486
NM_001429.4(EP300):c.2629G>A (p.Ala877Thr) rs772289466
NM_001429.4(EP300):c.2773C>A (p.Pro925Thr) rs148884710
NM_001429.4(EP300):c.2787A>G (p.Ala929=) rs143690368
NM_001429.4(EP300):c.2931G>C (p.Lys977Asn) rs749225428
NM_001429.4(EP300):c.2989A>G (p.Ile997Val) rs20551
NM_001429.4(EP300):c.2998-12G>A rs115849119
NM_001429.4(EP300):c.3105C>T (p.Thr1035=) rs150498069
NM_001429.4(EP300):c.3143-4del rs757931697
NM_001429.4(EP300):c.3143-7T>G rs778277906
NM_001429.4(EP300):c.3162A>G (p.Leu1054=) rs139758629
NM_001429.4(EP300):c.316A>G (p.Ser106Gly) rs150245975
NM_001429.4(EP300):c.3183T>A (p.Thr1061=) rs20552
NM_001429.4(EP300):c.324C>T (p.Ala108=) rs138876937
NM_001429.4(EP300):c.3262-2A>G rs1555910114
NM_001429.4(EP300):c.3348G>A (p.Gln1116=) rs20554
NM_001429.4(EP300):c.3354C>T (p.Val1118=) rs11704815
NM_001429.4(EP300):c.3426C>T (p.Cys1142=) rs76268515
NM_001429.4(EP300):c.3624C>A (p.Ile1208=) rs143660871
NM_001429.4(EP300):c.4026-7T>C rs187388966
NM_001429.4(EP300):c.4311A>C (p.Ala1437=) rs150941761
NM_001429.4(EP300):c.444G>A (p.Thr148=) rs376779611
NM_001429.4(EP300):c.444G>C (p.Thr148=) rs376779611
NM_001429.4(EP300):c.4503G>A (p.Leu1501=) rs368320273
NM_001429.4(EP300):c.4598C>A (p.Thr1533Asn) rs886057561
NM_001429.4(EP300):c.4798C>G (p.Leu1600Val) rs140154690
NM_001429.4(EP300):c.4824C>G (p.Ser1608=) rs199994113
NM_001429.4(EP300):c.4908C>T (p.Asp1636=) rs886057562
NM_001429.4(EP300):c.5028T>C (p.His1676=) rs747152661
NM_001429.4(EP300):c.5061+10G>A rs78432056
NM_001429.4(EP300):c.5061+7A>G rs886057563
NM_001429.4(EP300):c.5061+9C>T rs73176628
NM_001429.4(EP300):c.513G>A (p.Ala171=) rs146041458
NM_001429.4(EP300):c.5172C>A (p.Thr1724=) rs142330184
NM_001429.4(EP300):c.5179C>T (p.Pro1727Ser) rs886057564
NM_001429.4(EP300):c.5262A>G (p.Ser1754=) rs886057565
NM_001429.4(EP300):c.5604G>A (p.Thr1868=) rs200795114
NM_001429.4(EP300):c.5644A>G (p.Ser1882Gly) rs769796204
NM_001429.4(EP300):c.5808G>A (p.Ala1936=) rs144798492
NM_001429.4(EP300):c.5814G>A (p.Thr1938=) rs112948044
NM_001429.4(EP300):c.586A>G (p.Ile196Val) rs148693910
NM_001429.4(EP300):c.5889C>T (p.Ala1963=) rs886057566
NM_001429.4(EP300):c.5957C>T (p.Pro1986Leu) rs144626200
NM_001429.4(EP300):c.615G>A (p.Met205Ile) rs766306644
NM_001429.4(EP300):c.6289C>G (p.Pro2097Ala) rs200189212
NM_001429.4(EP300):c.631G>A (p.Gly211Ser) rs142030651
NM_001429.4(EP300):c.6358G>T (p.Gly2120Cys) rs886057567
NM_001429.4(EP300):c.6372C>T (p.Val2124=) rs34985152
NM_001429.4(EP300):c.6374A>G (p.His2125Arg) rs886057568
NM_001429.4(EP300):c.6395A>T (p.Asn2132Ile) rs886057569
NM_001429.4(EP300):c.6417C>T (p.Gly2139=) rs111315183
NM_001429.4(EP300):c.6437C>A (p.Pro2146His) rs745528077
NM_001429.4(EP300):c.6481A>G (p.Met2161Val) rs188035979
NM_001429.4(EP300):c.6516C>A (p.His2172Gln) rs139382344
NM_001429.4(EP300):c.6526C>T (p.Pro2176Ser) rs779543207
NM_001429.4(EP300):c.6636G>A (p.Gln2212=) rs142673005
NM_001429.4(EP300):c.6668A>C (p.Gln2223Pro) rs1046088
NM_001429.4(EP300):c.667C>G (p.Leu223Val) rs746720991
NM_001429.4(EP300):c.678C>G (p.Gly226=) rs147244947
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del) rs533875300
NM_001429.4(EP300):c.684C>G (p.Pro228=) rs749187279
NM_001429.4(EP300):c.6912C>T (p.Ser2304=) rs113329190
NM_001429.4(EP300):c.6951G>A (p.Arg2317=) rs139551099
NM_001429.4(EP300):c.6969C>G (p.Pro2323=) rs111489369
NM_001429.4(EP300):c.6984C>A (p.Ser2328=) rs200478275
NM_001429.4(EP300):c.7017C>T (p.His2339=) rs759571982
NM_001429.4(EP300):c.7136A>G (p.Asn2379Ser) rs886057571
NM_001429.4(EP300):c.726T>A (p.Leu242=) rs886057555
NM_001429.4(EP300):c.730-18_730-9del rs61120041
NM_001429.4(EP300):c.781C>T (p.Pro261Ser) rs753462821
NM_001429.4(EP300):c.865A>G (p.Met289Val) rs2230111
NM_001429.4(EP300):c.94+13A>G rs201124490
NM_001429.4(EP300):c.942C>T (p.Gly314=) rs20553

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