ClinVar Miner

List of variants studied for Rubinstein-Taybi syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 391
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HGVS dbSNP
CREBBP, 2-BP DEL, NT5222
GRCh37/hg19 16p13.3(chr16:3794894-3795355)
NC_000016.10:g.3729564_3729566del
NC_000016.9:g.(?_3777699)_(4852592_?)del
NC_000016.9:g.(?_3786017)_(3786836_?)dup
NC_000016.9:g.(?_3786631)_(3790570_?)dup
NC_000016.9:g.(?_3794875)_(3808993_?)del
NC_000016.9:g.(?_3799608)_(3821007_?)dup
NC_000016.9:g.(?_3817701)_(3817930_?)dup
NC_000016.9:g.(?_3830713)_(3831327_?)del
NC_000016.9:g.(?_3929813)_(4387545_?)dup
NC_000022.10:g.(41537227_41542742)_(41560135_41562602)dup
NC_000022.10:g.(?_41550979)_(41560154_?)del
NC_000022.11:g.(?_41092585)_(41093099_41117186)del
NC_000022.11:g.41155018C>T
NC_000022.11:g.41169562C>T
NG_009873.1:g.(?_5000)_(160068_?)del
NM_001079846.1(CREBBP):c.1062dup (p.Gln355fs) rs1567318022
NM_001079846.1(CREBBP):c.1063C>T (p.Gln355Ter) rs587783460
NM_001079846.1(CREBBP):c.1069C>T (p.Gln357Ter) rs121434625
NM_001079846.1(CREBBP):c.1089T>C (p.His363=) rs969407052
NM_001079846.1(CREBBP):c.1149G>A (p.Pro383=) rs61759495
NM_001079846.1(CREBBP):c.1156C>T (p.Arg386Ter) rs587783461
NM_001079846.1(CREBBP):c.1216+1312C>T rs1302427305
NM_001079846.1(CREBBP):c.1216+1332G>A rs587783463
NM_001079846.1(CREBBP):c.1216+1345C>T rs587783464
NM_001079846.1(CREBBP):c.1216+1355_1216+1356del rs1567316655
NM_001079846.1(CREBBP):c.1333C>T (p.Arg445Ter) rs1555484797
NM_001079846.1(CREBBP):c.1446_1447TC[1] (p.Leu483fs) rs1567309482
NM_001079846.1(CREBBP):c.1476del (p.Asn492fs) rs587783465
NM_001079846.1(CREBBP):c.1537C>A (p.Leu513Ile) rs61753381
NM_001079846.1(CREBBP):c.1618C>T (p.Pro540Ser) rs148023511
NM_001079846.1(CREBBP):c.164A>G (p.Asn55Ser) rs587783466
NM_001079846.1(CREBBP):c.1707del (p.Lys569fs) rs587783467
NM_001079846.1(CREBBP):c.1741dup (p.Ala581fs)
NM_001079846.1(CREBBP):c.1803dup (p.Met602fs) rs1567306142
NM_001079846.1(CREBBP):c.1827+1G>A rs1555483834
NM_001079846.1(CREBBP):c.1827+1G>T rs1555483834
NM_001079846.1(CREBBP):c.1839T>C (p.Tyr613=) rs130003
NM_001079846.1(CREBBP):c.1841A>C (p.His614Pro) rs587783468
NM_001079846.1(CREBBP):c.1891_1892delinsT (p.Lys630_Arg631insTer)
NM_001079846.1(CREBBP):c.1912del (p.Gln638fs) rs587783469
NM_001079846.1(CREBBP):c.1917del (p.Ile640fs) rs1555483716
NM_001079846.1(CREBBP):c.2008_2009del (p.Leu670fs) rs587783470
NM_001079846.1(CREBBP):c.2027G>T (p.Arg676Leu) rs141098117
NM_001079846.1(CREBBP):c.2064dup (p.Met689fs) rs797045483
NM_001079846.1(CREBBP):c.2079C>T (p.Asn693=) rs746813014
NM_001079846.1(CREBBP):c.2198A>G (p.Gln733Arg) rs147805823
NM_001079846.1(CREBBP):c.2200C>A (p.Pro734Thr) rs1555482779
NM_001079846.1(CREBBP):c.2208del (p.Asn736fs)
NM_001079846.1(CREBBP):c.2421C>A (p.Cys807Ter) rs587783471
NM_001079846.1(CREBBP):c.2488_2489TC[2] (p.Leu831fs) rs587783473
NM_001079846.1(CREBBP):c.2492T>C (p.Leu831Pro) rs587783472
NM_001079846.1(CREBBP):c.2564C>T (p.Ser855Leu) rs142047649
NM_001079846.1(CREBBP):c.2565G>A (p.Ser855=) rs587783474
NM_001079846.1(CREBBP):c.2565_2576delinsCC (p.Ser856fs) rs797045484
NM_001079846.1(CREBBP):c.2614A>G (p.Thr872Ala) rs143247685
NM_001079846.1(CREBBP):c.2641C>T (p.Gln881Ter)
NM_001079846.1(CREBBP):c.2670G>A (p.Pro890=) rs3025694
NM_001079846.1(CREBBP):c.2677C>T (p.Gln893Ter) rs587783475
NM_001079846.1(CREBBP):c.2696dup (p.Ser900fs) rs797045485
NM_001079846.1(CREBBP):c.2697G>A (p.Pro899=) rs146168040
NM_001079846.1(CREBBP):c.2827G>A (p.Ala943Thr) rs61753380
NM_001079846.1(CREBBP):c.282dup (p.Val95fs) rs797045486
NM_001079846.1(CREBBP):c.286C>T (p.Gln96Ter) rs587783476
NM_001079846.1(CREBBP):c.2947-1G>T rs1555481030
NM_001079846.1(CREBBP):c.2963_2971delinsAA (p.Leu988_Ala991delinsTer) rs797045488
NM_001079846.1(CREBBP):c.299del (p.Gly100fs) rs587783477
NM_001079846.1(CREBBP):c.2T>A (p.Met1Lys) rs797045487
NM_001079846.1(CREBBP):c.3076G>A (p.Glu1026Lys) rs886041006
NM_001079846.1(CREBBP):c.314_315del (p.Gly105fs)
NM_001079846.1(CREBBP):c.316C>T (p.Gln106Ter) rs587783478
NM_001079846.1(CREBBP):c.3196C>T (p.Gln1066Ter) rs587783479
NM_001079846.1(CREBBP):c.3255+1G>A
NM_001079846.1(CREBBP):c.3255+1G>T rs587783480
NM_001079846.1(CREBBP):c.3322C>T (p.Gln1108Ter) rs797045489
NM_001079846.1(CREBBP):c.3347dup (p.Asp1117fs) rs797045490
NM_001079846.1(CREBBP):c.3376G>C (p.Ala1126Pro) rs797045492
NM_001079846.1(CREBBP):c.3386A>G (p.Tyr1129Cys) rs587783481
NM_001079846.1(CREBBP):c.3398C>G (p.Thr1133Arg) rs1567287477
NM_001079846.1(CREBBP):c.3410A>G (p.Tyr1137Cys) rs28937315
NM_001079846.1(CREBBP):c.348_349dup (p.Ala117fs) rs797045491
NM_001079846.1(CREBBP):c.3499G>T (p.Glu1167Ter) rs587783482
NM_001079846.1(CREBBP):c.3584+7G>A rs374345970
NM_001079846.1(CREBBP):c.3665+1G>A rs587783483
NM_001079846.1(CREBBP):c.3718G>A (p.Glu1240Lys) rs267606752
NM_001079846.1(CREBBP):c.3722+1G>A rs200782888
NM_001079846.1(CREBBP):c.3722+1G>C
NM_001079846.1(CREBBP):c.3723-2A>T rs1567277287
NM_001079846.1(CREBBP):c.3786C>A (p.Ile1262=) rs129974
NM_001079846.1(CREBBP):c.37A>G (p.Lys13Glu) rs587783484
NM_001079846.1(CREBBP):c.3800+1G>T rs1555475352
NM_001079846.1(CREBBP):c.3800+3G>T rs587783485
NM_001079846.1(CREBBP):c.3863del (p.Ala1288fs) rs1567276741
NM_001079846.1(CREBBP):c.3868+1G>A rs398124145
NM_001079846.1(CREBBP):c.3869-2A>G rs587783486
NM_001079846.1(CREBBP):c.3871C>T (p.Leu1291=) rs149055008
NM_001079846.1(CREBBP):c.3875A>G (p.Gln1292Arg) rs587783487
NM_001079846.1(CREBBP):c.3908G>C (p.Arg1303Pro) rs587783488
NM_001079846.1(CREBBP):c.3931C>T (p.Gln1311Ter) rs587783489
NM_001079846.1(CREBBP):c.3964C>T (p.Arg1322Ter) rs587783490
NM_001079846.1(CREBBP):c.4019+1G>A rs587783491
NM_001079846.1(CREBBP):c.4019G>C (p.Arg1340Pro) rs121434626
NM_001079846.1(CREBBP):c.4020-1G>T rs886041048
NM_001079846.1(CREBBP):c.406C>T (p.Gln136Ter) rs121434624
NM_001079846.1(CREBBP):c.4112T>C (p.Phe1371Ser) rs587783492
NM_001079846.1(CREBBP):c.4116dup (p.Gly1373fs) rs1555473668
NM_001079846.1(CREBBP):c.4167-11C>G rs587783493
NM_001079846.1(CREBBP):c.4167G>T (p.Arg1389Ser) rs797045494
NM_001079846.1(CREBBP):c.4222C>T (p.Arg1408Cys) rs398124146
NM_001079846.1(CREBBP):c.4262A>G (p.Glu1421Gly) rs587783494
NM_001079846.1(CREBBP):c.4280G>A (p.Gly1427Glu) rs1555473491
NM_001079846.1(CREBBP):c.4284T>A (p.Tyr1428Ter) rs147688139
NM_001079846.1(CREBBP):c.4307_4308delinsTC (p.Cys1436Phe) rs1555473126
NM_001079846.1(CREBBP):c.4322_4324del (p.Gly1441del) rs1555473122
NM_001079846.1(CREBBP):c.4325A>G (p.Asp1442Gly) rs886041286
NM_001079846.1(CREBBP):c.4330T>G (p.Tyr1444Asp) rs587783495
NM_001079846.1(CREBBP):c.4331A>G (p.Tyr1444Cys) rs587783496
NM_001079846.1(CREBBP):c.4351C>G (p.Pro1451Ala)
NM_001079846.1(CREBBP):c.4394A>G (p.Tyr1465Cys) rs587783497
NM_001079846.1(CREBBP):c.4445A>G (p.Lys1482Arg)
NM_001079846.1(CREBBP):c.4528_4529GT[1] (p.Leu1511fs) rs1555472938
NM_001079846.1(CREBBP):c.4546A>T (p.Lys1516Ter) rs1567269316
NM_001079846.1(CREBBP):c.4549G>T (p.Glu1517Ter) rs1555472931
NM_001079846.1(CREBBP):c.4558C>T (p.Gln1520Ter)
NM_001079846.1(CREBBP):c.4575del (p.Lys1527fs) rs587783499
NM_001079846.1(CREBBP):c.459G>A (p.Pro153=) rs56388626
NM_001079846.1(CREBBP):c.4678del (p.Ser1560fs) rs587783500
NM_001079846.1(CREBBP):c.472del (p.Gln158fs) rs1555496581
NM_001079846.1(CREBBP):c.4776+6C>T rs1567265838
NM_001079846.1(CREBBP):c.4780T>C (p.Phe1594Leu) rs587783501
NM_001079846.1(CREBBP):c.4900A>T (p.Arg1634Ter) rs1555471874
NM_001079846.1(CREBBP):c.4913G>A (p.Trp1638Ter) rs797045495
NM_001079846.1(CREBBP):c.4922_4924CCT[1] (p.Ser1642del) rs587783502
NM_001079846.1(CREBBP):c.4936T>C (p.Ser1646Pro) rs587783503
NM_001079846.1(CREBBP):c.4937C>A (p.Ser1646Tyr) rs1555471841
NM_001079846.1(CREBBP):c.508C>T (p.Gln170Ter) rs1555496560
NM_001079846.1(CREBBP):c.5123G>T (p.Gly1708Val) rs869312714
NM_001079846.1(CREBBP):c.5298C>A (p.His1766Gln) rs797045496
NM_001079846.1(CREBBP):c.5500A>G (p.Met1834Val) rs797045037
NM_001079846.1(CREBBP):c.5525_5526AG[1] (p.Leu1844fs) rs1567263114
NM_001079846.1(CREBBP):c.5580_5589del (p.Ser1860fs) rs1555471323
NM_001079846.1(CREBBP):c.5605G>A (p.Ala1869Thr) rs199990883
NM_001079846.1(CREBBP):c.5626G>A (p.Val1876Met)
NM_001079846.1(CREBBP):c.5686T>C (p.Ser1896Pro) rs587783504
NM_001079846.1(CREBBP):c.5707C>T (p.Gln1903Ter) rs587783505
NM_001079846.1(CREBBP):c.5720_5730del (p.Pro1907fs) rs587783506
NM_001079846.1(CREBBP):c.5723C>A (p.Pro1908Gln)
NM_001079846.1(CREBBP):c.5723del (p.Pro1908fs) rs587783507
NM_001079846.1(CREBBP):c.5723dup (p.Pro1909fs) rs587783507
NM_001079846.1(CREBBP):c.5742dup (p.Pro1915fs)
NM_001079846.1(CREBBP):c.5755del (p.Glu1919fs) rs587783508
NM_001079846.1(CREBBP):c.5791C>T (p.Gln1931Ter) rs1567262537
NM_001079846.1(CREBBP):c.5822_5823insT (p.Ser1942fs) rs797045498
NM_001079846.1(CREBBP):c.5874C>T (p.Ala1958=) rs181646656
NM_001079846.1(CREBBP):c.5957C>T (p.Ala1986Val) rs745551441
NM_001079846.1(CREBBP):c.5974C>T (p.Gln1992Ter) rs587783510
NM_001079846.1(CREBBP):c.598C>T (p.Gln200Ter) rs587783509
NM_001079846.1(CREBBP):c.5993_6002del (p.Pro1998fs) rs797045499
NM_001079846.1(CREBBP):c.6016_6057del (p.Ala2006_Gln2019del) rs587783511
NM_001079846.1(CREBBP):c.6161C>G (p.Ser2054Ter) rs1555471077
NM_001079846.1(CREBBP):c.6210C>A (p.Tyr2070Ter) rs199821421
NM_001079846.1(CREBBP):c.6270_6287del (p.Gln2090_Met2095del)
NM_001079846.1(CREBBP):c.6281_6303dup (p.Gln2102fs) rs797045500
NM_001079846.1(CREBBP):c.6330C>T (p.Gly2110=) rs148539895
NM_001079846.1(CREBBP):c.6335C>T (p.Pro2112Leu) rs587783512
NM_001079846.1(CREBBP):c.6507A>G (p.Gln2169=) rs55960450
NM_001079846.1(CREBBP):c.6597C>T (p.Pro2199=) rs3751845
NM_001079846.1(CREBBP):c.6944_6964del (p.Arg2315_Pro2321del) rs766383937
NM_001079846.1(CREBBP):c.7048G>A (p.Ala2350Thr)
NM_001079846.1(CREBBP):c.7098A>G (p.Glu2366=) rs55916120
NM_001079846.1(CREBBP):c.7131C>T (p.Pro2377=) rs1555470758
NM_001079846.1(CREBBP):c.7147_*247delinsC (p.Ser2383_Ter2405delinsXaa) rs1555470631
NM_001079846.1(CREBBP):c.7197G>T (p.Lys2399Asn)
NM_001079846.1(CREBBP):c.827_828dup (p.Gly277fs) rs797045502
NM_001079846.1(CREBBP):c.86-1G>T rs11644721
NM_001079846.1(CREBBP):c.86-2A>C rs587783515
NM_001079846.1(CREBBP):c.879G>A (p.Val293=) rs144344016
NM_001079846.1(CREBBP):c.939T>C (p.Asp313=) rs3025702
NM_001079846.1(CREBBP):c.953C>A (p.Ser318Ter) rs587783516
NM_001429.3(EP300):c.3857A>G rs1555910821
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.102_103CT[1] (p.Ser35fs) rs886037664
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.1316A>G (p.Asn439Ser)
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.1529-8T>C rs587783621
NM_001429.4(EP300):c.1540A>G (p.Met514Val) rs765266179
NM_001429.4(EP300):c.1575G>A (p.Pro525=) rs772455986
NM_001429.4(EP300):c.157T>C (p.Leu53=) rs147566983
NM_001429.4(EP300):c.1627A>G (p.Met543Val)
NM_001429.4(EP300):c.1672A>G (p.Thr558Ala) rs1057519397
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.1942C>T (p.Arg648Ter) rs137853039
NM_001429.4(EP300):c.1989C>T (p.Gly663=) rs1291428868
NM_001429.4(EP300):c.1990A>G (p.Met664Val) rs529145180
NM_001429.4(EP300):c.2019T>C (p.Pro673=) rs2230110
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.2164dup (p.Gln722fs) rs879253873
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.2348C>T (p.Ala783Val) rs755619355
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.2877_2884del (p.Thr960fs) rs1569108381
NM_001429.4(EP300):c.2931G>C (p.Lys977Asn) rs749225428
NM_001429.4(EP300):c.2983G>T (p.Glu995Ter) rs1555909666
NM_001429.4(EP300):c.2989A>G (p.Ile997Val) rs20551
NM_001429.4(EP300):c.2998-12G>A rs115849119
NM_001429.4(EP300):c.3070_3074del (p.Lys1024fs) rs1555909697
NM_001429.4(EP300):c.307G>A (p.Val103Ile) rs1193355188
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.3163C>T (p.Arg1055Ter) rs886041830
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.3573T>A (p.Tyr1191Ter) rs565779970
NM_001429.4(EP300):c.359G>A (p.Ser120Asn) rs1303897359
NM_001429.4(EP300):c.3617A>G (p.Asn1206Ser)
NM_001429.4(EP300):c.3624C>A (p.Ile1208=) rs143660871
NM_001429.4(EP300):c.363G>C (p.Met121Ile) rs757476470
NM_001429.4(EP300):c.3665C>A (p.Pro1222His) rs7285319
NM_001429.4(EP300):c.3684_3687del (p.Lys1228fs) rs1555910482
NM_001429.4(EP300):c.3728+5G>C rs1114167305
NM_001429.4(EP300):c.3731_3733TTG[1] (p.Val1245del) rs1555910602
NM_001429.4(EP300):c.3750C>G (p.Cys1250Trp)
NM_001429.4(EP300):c.4026-7T>C rs187388966
NM_001429.4(EP300):c.4311A>C (p.Ala1437=) rs150941761
NM_001429.4(EP300):c.4331A>G (p.Asp1444Gly) rs1569117388
NM_001429.4(EP300):c.4363C>T (p.Gln1455Ter) rs1555911313
NM_001429.4(EP300):c.4371_4376del (p.Ile1457_Lys1459delinsMet) rs1555911316
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.4452+5G>T rs1555911334
NM_001429.4(EP300):c.4503G>A (p.Leu1501=) rs368320273
NM_001429.4(EP300):c.4505C>T (p.Pro1502Leu) rs1555911573
NM_001429.4(EP300):c.4511T>G (p.Phe1504Cys) rs1114167306
NM_001429.4(EP300):c.4529C>G (p.Pro1510Arg) rs1569118503
NM_001429.4(EP300):c.4585C>T (p.Arg1529Ter) rs1569118537
NM_001429.4(EP300):c.4598C>A (p.Thr1533Asn) rs886057561
NM_001429.4(EP300):c.4763T>C (p.Met1588Thr) rs1057521737
NM_001429.4(EP300):c.4783T>G (p.Phe1595Val) rs1057517732
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.4836dup (p.Val1613fs) rs797045559
NM_001429.4(EP300):c.4908C>T (p.Asp1636=) rs886057562
NM_001429.4(EP300):c.4933C>T (p.Arg1645Ter) rs139310551
NM_001429.4(EP300):c.4954_4957dup (p.Cys1653fs) rs1555912040
NM_001429.4(EP300):c.4994G>A (p.Arg1665His)
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.5422A>C (p.Asn1808His) rs1569120861
NM_001429.4(EP300):c.5492G>C (p.Arg1831Thr)
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.5723dup (p.Thr1909fs) rs1555912182
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.6001C>T (p.Pro2001Ser) rs1210404526
NM_001429.4(EP300):c.615G>A (p.Met205Ile) rs766306644
NM_001429.4(EP300):c.6196C>T (p.Gln2066Ter) rs1555912238
NM_001429.4(EP300):c.6210G>A (p.Val2070=) rs11912899
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.638del (p.Gly213fs) rs1569090642
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.6574_6585del (p.Gln2192_Gln2195del) rs875989807
NM_001429.4(EP300):c.6627_6638del (p.Asn2209_Gln2213delinsLys) rs587778256
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.6691del (p.Met2231fs)
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.68_69TC[1] (p.Ser24fs) rs1555902247
NM_001429.4(EP300):c.6912C>T (p.Ser2304=) rs113329190
NM_001429.4(EP300):c.6915_6918del (p.Asn2305fs) rs797045560
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.7070A>G (p.Asn2357Ser)
NM_001429.4(EP300):c.7100del (p.Pro2367fs) rs1569122847
NM_001429.4(EP300):c.7136A>G (p.Asn2379Ser) rs886057571
NM_001429.4(EP300):c.7220_7221CA[1] (p.Gln2408fs) rs1057519375
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.769_786del (p.Tyr257_Gly262del) rs876661318
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
NM_001429.4:c.730_1760del
NM_004380.2(CREBBP):c.(?_-23)_85+?del
NM_004380.2(CREBBP):c.-204_85del rs1567386034
NM_004380.2(CREBBP):c.[4112T>A;4118C>A]
NM_004380.3(CREBBP):c.85+1G>A
Single allele

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