ClinVar Miner

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

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Gene type:
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Total variants: 250
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HGVS dbSNP
CREBBP, 2-BP DEL, NT5222
GRCh37/hg19 16p13.3(chr16:3794894-3795355)
NC_000016.10:g.(?_3744874)_(3758992_?)del
NC_000016.9:g.(?_3786017)_(3786836_?)dup
NC_000016.9:g.(?_3786631)_(3790570_?)dup
NC_000016.9:g.(?_3799608)_(3821007_?)dup
NG_009873.1:g.(?_5000)_(160068_?)del
NM_001079846.1(CREBBP):c.1446_1447TC[1] (p.Leu483fs) rs1567309482
NM_001079846.1(CREBBP):c.2488_2489TC[2] (p.Leu831fs) rs587783473
NM_001079846.1(CREBBP):c.2565_2576delinsCC (p.Ser856fs) rs797045484
NM_001079846.1(CREBBP):c.2963_2971delinsAA (p.Leu988_Ala991delinsTer) rs797045488
NM_001079846.1(CREBBP):c.4922_4924CCT[1] (p.Ser1642del) rs587783502
NM_001079846.1(CREBBP):c.5525_5526AG[1] (p.Leu1844fs) rs1567263114
NM_001079846.1(CREBBP):c.5723del (p.Pro1908fs) rs587783507
NM_001079846.1(CREBBP):c.7147_*247delinsC (p.Ser2383_Ter2405delinsXaa) rs1555470631
NM_004380.2(CREBBP):c.(?_-23)_85+?del
NM_004380.2(CREBBP):c.[4112T>A;4118C>A]
NM_004380.3(CREBBP):c.-204_85del (p.Met1fs) rs1567386034
NM_004380.3(CREBBP):c.1044del (p.Glu349fs) rs1596948052
NM_004380.3(CREBBP):c.1062dup (p.Gln355fs) rs1567318022
NM_004380.3(CREBBP):c.1063C>T (p.Gln355Ter) rs587783460
NM_004380.3(CREBBP):c.1069C>T (p.Gln357Ter) rs121434625
NM_004380.3(CREBBP):c.1089T>C (p.His363=) rs969407052
NM_004380.3(CREBBP):c.1108C>T (p.Arg370Ter) rs1384496494
NM_004380.3(CREBBP):c.1124del (p.Gly375fs) rs1596947743
NM_004380.3(CREBBP):c.1125_1126AG[3] (p.Val377fs) rs1596947732
NM_004380.3(CREBBP):c.1149G>A (p.Pro383=) rs61759495
NM_004380.3(CREBBP):c.1156C>T (p.Arg386Ter) rs587783461
NM_004380.3(CREBBP):c.1213C>G (p.Gln405Glu)
NM_004380.3(CREBBP):c.1216+2T>A rs1596947522
NM_004380.3(CREBBP):c.1225_1231del (p.Cys409fs) rs1596944340
NM_004380.3(CREBBP):c.1237C>T (p.Arg413Ter) rs1302427305
NM_004380.3(CREBBP):c.1257G>A (p.Trp419Ter) rs587783463
NM_004380.3(CREBBP):c.1270C>T (p.Arg424Ter) rs587783464
NM_004380.3(CREBBP):c.1280_1281del (p.Cys427fs) rs1567316655
NM_004380.3(CREBBP):c.1447C>T (p.Arg483Ter) rs1555484797
NM_004380.3(CREBBP):c.1483C>T (p.Gln495Ter) rs1596920745
NM_004380.3(CREBBP):c.1549C>T (p.Gln517Ter) rs1596920501
NM_004380.3(CREBBP):c.1573+1G>A rs1596920360
NM_004380.3(CREBBP):c.1590del (p.Asn530fs) rs587783465
NM_004380.3(CREBBP):c.1646C>G (p.Ser549Ter) rs1596917200
NM_004380.3(CREBBP):c.164A>G (p.Asn55Ser) rs587783466
NM_004380.3(CREBBP):c.1694del (p.Gly565fs) rs1596916327
NM_004380.3(CREBBP):c.1732C>T (p.Pro578Ser) rs148023511
NM_004380.3(CREBBP):c.173_185del (p.Asn58fs) rs1597054837
NM_004380.3(CREBBP):c.1801C>T (p.Arg601Trp) rs1354934373
NM_004380.3(CREBBP):c.1821del (p.Lys607fs) rs587783467
NM_004380.3(CREBBP):c.1823T>C (p.Leu608Pro)
NM_004380.3(CREBBP):c.1824-1G>A rs1596910004
NM_004380.3(CREBBP):c.1907_1912del (p.Val636_Glu637del) rs1596909791
NM_004380.3(CREBBP):c.1917dup (p.Met640fs) rs1567306142
NM_004380.3(CREBBP):c.1941+1G>A rs1555483834
NM_004380.3(CREBBP):c.1941+1G>T rs1555483834
NM_004380.3(CREBBP):c.1941+2T>C rs1596909656
NM_004380.3(CREBBP):c.1955A>C (p.His652Pro) rs587783468
NM_004380.3(CREBBP):c.2026del (p.Gln676fs) rs587783469
NM_004380.3(CREBBP):c.2031del (p.Ile678fs) rs1555483716
NM_004380.3(CREBBP):c.2122_2123del (p.Leu708fs) rs587783470
NM_004380.3(CREBBP):c.2141G>T (p.Arg714Leu) rs141098117
NM_004380.3(CREBBP):c.2159-1G>T rs1596897799
NM_004380.3(CREBBP):c.2178dup (p.Met727fs) rs797045483
NM_004380.3(CREBBP):c.2193C>T (p.Asn731=) rs746813014
NM_004380.3(CREBBP):c.2312A>G (p.Gln771Arg) rs147805823
NM_004380.3(CREBBP):c.2314C>A (p.Pro772Thr) rs1555482779
NM_004380.3(CREBBP):c.2330del (p.Gly777fs) rs1596895500
NM_004380.3(CREBBP):c.2383_2400dup (p.Pro795_Pro800dup) rs1596895167
NM_004380.3(CREBBP):c.2417T>G (p.Met806Arg) rs1596895058
NM_004380.3(CREBBP):c.243_244insTA (p.Ile82Ter) rs1597054662
NM_004380.3(CREBBP):c.2456dup (p.Ser820fs) rs1596894889
NM_004380.3(CREBBP):c.2535C>A (p.Cys845Ter) rs587783471
NM_004380.3(CREBBP):c.2606T>C (p.Leu869Pro) rs587783472
NM_004380.3(CREBBP):c.2678C>T (p.Ser893Leu) rs142047649
NM_004380.3(CREBBP):c.2679G>A (p.Ser893=) rs587783474
NM_004380.3(CREBBP):c.2713_2719del (p.Ser905fs) rs1596886295
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala) rs143247685
NM_004380.3(CREBBP):c.2773C>T (p.Gln925Ter) rs1596886132
NM_004380.3(CREBBP):c.2787dup (p.Pro930fs) rs1596886048
NM_004380.3(CREBBP):c.2791C>T (p.Gln931Ter) rs587783475
NM_004380.3(CREBBP):c.2810dup (p.Ser938fs) rs797045485
NM_004380.3(CREBBP):c.2811G>A (p.Pro937=) rs146168040
NM_004380.3(CREBBP):c.2817_2818delinsT (p.Ala940fs) rs1596885894
NM_004380.3(CREBBP):c.282dup (p.Val95fs) rs797045486
NM_004380.3(CREBBP):c.283G>A (p.Val95Met) rs756802946
NM_004380.3(CREBBP):c.2854_2863dup (p.Gln955fs) rs1596885651
NM_004380.3(CREBBP):c.286C>T (p.Gln96Ter) rs587783476
NM_004380.3(CREBBP):c.2910dup (p.Arg971fs) rs1596882629
NM_004380.3(CREBBP):c.2911A>T (p.Arg971Ter) rs1374436403
NM_004380.3(CREBBP):c.2941G>A (p.Ala981Thr) rs61753380
NM_004380.3(CREBBP):c.299del (p.Gly100fs) rs587783477
NM_004380.3(CREBBP):c.2T>A (p.Met1Lys) rs797045487
NM_004380.3(CREBBP):c.3020_3021dup (p.Pro1008fs) rs1596882124
NM_004380.3(CREBBP):c.3058G>T (p.Glu1020Ter) rs1596882010
NM_004380.3(CREBBP):c.3060+1G>T rs1596882004
NM_004380.3(CREBBP):c.3061-1G>T rs1555481030
NM_004380.3(CREBBP):c.3097A>T (p.Lys1033Ter) rs1596878921
NM_004380.3(CREBBP):c.3168dup (p.Val1057fs) rs1596878700
NM_004380.3(CREBBP):c.316C>T (p.Gln106Ter) rs587783478
NM_004380.3(CREBBP):c.3190G>A (p.Glu1064Lys) rs886041006
NM_004380.3(CREBBP):c.3292del (p.Thr1097_Leu1098insTer) rs1596856390
NM_004380.3(CREBBP):c.3310C>T (p.Gln1104Ter) rs587783479
NM_004380.3(CREBBP):c.3330_3334del (p.Phe1111fs) rs1596856285
NM_004380.3(CREBBP):c.3366dup (p.Pro1123fs) rs1596856176
NM_004380.3(CREBBP):c.3369+1G>T rs587783480
NM_004380.3(CREBBP):c.3432_3433del (p.Gly1145fs) rs1596854369
NM_004380.3(CREBBP):c.3436C>T (p.Gln1146Ter) rs797045489
NM_004380.3(CREBBP):c.3461dup (p.Asp1155fs) rs797045490
NM_004380.3(CREBBP):c.348_349dup (p.Ala117fs) rs797045491
NM_004380.3(CREBBP):c.3490G>C (p.Ala1164Pro) rs797045492
NM_004380.3(CREBBP):c.3495_3575del (p.Trp1165_Val1192delinsCys) rs1596853925
NM_004380.3(CREBBP):c.3500A>G (p.Tyr1167Cys) rs587783481
NM_004380.3(CREBBP):c.3512C>G (p.Thr1171Arg)
NM_004380.3(CREBBP):c.3524A>G (p.Tyr1175Cys) rs28937315
NM_004380.3(CREBBP):c.3535A>G (p.Ser1179Gly) rs1596854023
NM_004380.3(CREBBP):c.3610-1G>C rs1596852670
NM_004380.3(CREBBP):c.3610-2A>G rs1596852674
NM_004380.3(CREBBP):c.3613G>T (p.Glu1205Ter) rs587783482
NM_004380.3(CREBBP):c.3625C>T (p.Gln1209Ter) rs1596852578
NM_004380.3(CREBBP):c.3659_3660delinsATGGTA (p.Thr1220fs) rs1596852463
NM_004380.3(CREBBP):c.3661_3665del (p.Ile1221fs) rs1596852443
NM_004380.3(CREBBP):c.3690T>G (p.Tyr1230Ter) rs748451307
NM_004380.3(CREBBP):c.3698+5G>T rs1596852349
NM_004380.3(CREBBP):c.3719G>A (p.Cys1240Tyr) rs1596839714
NM_004380.3(CREBBP):c.376G>T (p.Gly126Ter) rs1597054242
NM_004380.3(CREBBP):c.3779+1G>A rs587783483
NM_004380.3(CREBBP):c.3779+1G>T rs587783483
NM_004380.3(CREBBP):c.37A>G (p.Lys13Glu) rs587783484
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys) rs267606752
NM_004380.3(CREBBP):c.3832del (p.Glu1278fs) rs1596834998
NM_004380.3(CREBBP):c.3836+1G>A rs200782888
NM_004380.3(CREBBP):c.3836+1G>C rs200782888
NM_004380.3(CREBBP):c.3837-2A>T rs1567277287
NM_004380.3(CREBBP):c.3914+1G>A rs1555475352
NM_004380.3(CREBBP):c.3914+1G>T rs1555475352
NM_004380.3(CREBBP):c.3914+3G>T rs587783485
NM_004380.3(CREBBP):c.3977del (p.Ala1326fs) rs1567276741
NM_004380.3(CREBBP):c.3982+1G>A rs398124145
NM_004380.3(CREBBP):c.3982+3A>T rs1596823180
NM_004380.3(CREBBP):c.3983-2A>G rs587783486
NM_004380.3(CREBBP):c.3989A>G (p.Gln1330Arg) rs587783487
NM_004380.3(CREBBP):c.4022G>C (p.Arg1341Pro) rs587783488
NM_004380.3(CREBBP):c.4040G>C (p.Arg1347Pro) rs1596813665
NM_004380.3(CREBBP):c.4045C>T (p.Gln1349Ter) rs587783489
NM_004380.3(CREBBP):c.406C>T (p.Gln136Ter) rs121434624
NM_004380.3(CREBBP):c.4078C>T (p.Arg1360Ter) rs587783490
NM_004380.3(CREBBP):c.4078dup (p.Arg1360fs) rs1596813570
NM_004380.3(CREBBP):c.4133+1G>A rs587783491
NM_004380.3(CREBBP):c.4133G>C (p.Arg1378Pro) rs121434626
NM_004380.3(CREBBP):c.4134-1G>T rs886041048
NM_004380.3(CREBBP):c.4145C>T (p.Ser1382Phe) rs149877180
NM_004380.3(CREBBP):c.4174C>T (p.Arg1392Ter) rs1596812306
NM_004380.3(CREBBP):c.4175G>T (p.Arg1392Leu) rs1596812290
NM_004380.3(CREBBP):c.4206del (p.Ile1402fs) rs1596812256
NM_004380.3(CREBBP):c.4226T>C (p.Phe1409Ser) rs587783492
NM_004380.3(CREBBP):c.4230dup (p.Gly1411fs) rs1555473668
NM_004380.3(CREBBP):c.4243C>T (p.Gln1415Ter) rs1596812202
NM_004380.3(CREBBP):c.4262G>T (p.Cys1421Phe)
NM_004380.3(CREBBP):c.4277C>G (p.Thr1426Arg) rs145988918
NM_004380.3(CREBBP):c.4279A>G (p.Arg1427Gly) rs794727401
NM_004380.3(CREBBP):c.4281-11C>G rs587783493
NM_004380.3(CREBBP):c.4281G>T (p.Arg1427Ser) rs797045494
NM_004380.3(CREBBP):c.4283G>C (p.Arg1428Pro) rs778448390
NM_004380.3(CREBBP):c.4290C>A (p.Tyr1430Ter) rs1596810465
NM_004380.3(CREBBP):c.4297T>C (p.Tyr1433His) rs1596810435
NM_004380.3(CREBBP):c.4303G>T (p.Asp1435Tyr) rs1596810419
NM_004380.3(CREBBP):c.4336C>T (p.Arg1446Cys) rs398124146
NM_004380.3(CREBBP):c.4376A>G (p.Glu1459Gly) rs587783494
NM_004380.3(CREBBP):c.437C>T (p.Ala146Val) rs1295662710
NM_004380.3(CREBBP):c.4394+3_4394+7del rs1596810185
NM_004380.3(CREBBP):c.4398T>A (p.Tyr1466Ter) rs147688139
NM_004380.3(CREBBP):c.4417G>A (p.Ala1473Thr) rs1596805927
NM_004380.3(CREBBP):c.4421_4422delinsTC (p.Cys1474Phe) rs1555473126
NM_004380.3(CREBBP):c.4436_4438del (p.Gly1479del) rs1555473122
NM_004380.3(CREBBP):c.4439A>G (p.Asp1480Gly) rs886041286
NM_004380.3(CREBBP):c.4444T>G (p.Tyr1482Asp) rs587783495
NM_004380.3(CREBBP):c.4445A>G (p.Tyr1482Cys) rs587783496
NM_004380.3(CREBBP):c.4458_4459insT (p.His1487fs) rs1596805807
NM_004380.3(CREBBP):c.4459C>T (p.His1487Tyr) rs1057519207
NM_004380.3(CREBBP):c.4460A>G (p.His1487Arg) rs1596805792
NM_004380.3(CREBBP):c.4508A>G (p.Tyr1503Cys) rs587783497
NM_004380.3(CREBBP):c.4559A>T (p.Lys1520Met) rs1596805575
NM_004380.3(CREBBP):c.4613C>T (p.Pro1538Leu) rs1596804126
NM_004380.3(CREBBP):c.4642_4643GT[1] (p.Leu1549fs) rs1555472938
NM_004380.3(CREBBP):c.4644_4646dup (p.Leu1549dup) rs1596804073
NM_004380.3(CREBBP):c.4660A>T (p.Lys1554Ter) rs1567269316
NM_004380.3(CREBBP):c.4663G>T (p.Glu1555Ter) rs1555472931
NM_004380.3(CREBBP):c.4689del (p.Lys1565fs) rs587783499
NM_004380.3(CREBBP):c.4728+2del rs1596803811
NM_004380.3(CREBBP):c.472del (p.Gln158fs) rs1555496581
NM_004380.3(CREBBP):c.4792del (p.Ser1598fs) rs587783500
NM_004380.3(CREBBP):c.4890+1G>A rs1596793242
NM_004380.3(CREBBP):c.4890+6C>T rs1567265838
NM_004380.3(CREBBP):c.4894T>C (p.Phe1632Leu) rs587783501
NM_004380.3(CREBBP):c.494_507del (p.Ser165fs) rs1597053795
NM_004380.3(CREBBP):c.4991G>A (p.Arg1664His) rs1596791996
NM_004380.3(CREBBP):c.5014A>T (p.Arg1672Ter) rs1555471874
NM_004380.3(CREBBP):c.5027G>A (p.Trp1676Ter) rs797045495
NM_004380.3(CREBBP):c.5050T>C (p.Ser1684Pro) rs587783503
NM_004380.3(CREBBP):c.5051C>A (p.Ser1684Tyr) rs1555471841
NM_004380.3(CREBBP):c.508C>T (p.Gln170Ter) rs1555496560
NM_004380.3(CREBBP):c.5186G>C (p.Cys1729Ser)
NM_004380.3(CREBBP):c.5237G>T (p.Gly1746Val) rs869312714
NM_004380.3(CREBBP):c.5357G>A (p.Arg1786His)
NM_004380.3(CREBBP):c.5412C>A (p.His1804Gln) rs797045496
NM_004380.3(CREBBP):c.5482_5484del (p.Tyr1828del) rs1596787459
NM_004380.3(CREBBP):c.5614A>G (p.Met1872Val) rs797045037
NM_004380.3(CREBBP):c.5694_5703del (p.Ser1898fs) rs1555471323
NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr) rs199990883
NM_004380.3(CREBBP):c.5722del (p.Gln1908fs) rs1596786752
NM_004380.3(CREBBP):c.5740G>A (p.Val1914Met) rs760771706
NM_004380.3(CREBBP):c.5776C>G (p.Arg1926Gly) rs778915687
NM_004380.3(CREBBP):c.5790dup (p.Thr1931fs) rs1596786512
NM_004380.3(CREBBP):c.5800T>C (p.Ser1934Pro) rs587783504
NM_004380.3(CREBBP):c.5821C>T (p.Gln1941Ter) rs587783505
NM_004380.3(CREBBP):c.5834_5844del (p.Pro1945fs) rs587783506
NM_004380.3(CREBBP):c.5837C>A (p.Pro1946Gln) rs765600316
NM_004380.3(CREBBP):c.5837dup (p.Pro1947fs) rs587783507
NM_004380.3(CREBBP):c.5845dup (p.Ala1949fs) rs1596786219
NM_004380.3(CREBBP):c.5869del (p.Glu1957fs) rs587783508
NM_004380.3(CREBBP):c.5905C>T (p.Gln1969Ter) rs1567262537
NM_004380.3(CREBBP):c.5936_5937insT (p.Ser1980fs) rs797045498
NM_004380.3(CREBBP):c.5986del (p.Ala1996fs) rs1596785514
NM_004380.3(CREBBP):c.598C>T (p.Gln200Ter) rs587783509
NM_004380.3(CREBBP):c.6071C>T (p.Ala2024Val) rs745551441
NM_004380.3(CREBBP):c.6088C>T (p.Gln2030Ter) rs587783510
NM_004380.3(CREBBP):c.6107_6116del (p.Pro2036fs) rs797045499
NM_004380.3(CREBBP):c.6113_6137del (p.Pro2038fs) rs1596784713
NM_004380.3(CREBBP):c.6113_6137dup (p.Ala2047fs) rs1596784713
NM_004380.3(CREBBP):c.6130_6171del (p.Ala2044_Gln2057del) rs587783511
NM_004380.3(CREBBP):c.613C>T (p.Gln205Ter) rs1597053504
NM_004380.3(CREBBP):c.6221_6230del (p.Leu2074fs) rs1596784310
NM_004380.3(CREBBP):c.6275C>G (p.Ser2092Ter) rs1555471077
NM_004380.3(CREBBP):c.6324C>A (p.Tyr2108Ter) rs199821421
NM_004380.3(CREBBP):c.6395_6417del (p.Gly2132fs) rs797045500
NM_004380.3(CREBBP):c.6395_6417dup (p.Gln2140fs) rs797045500
NM_004380.3(CREBBP):c.6436C>T (p.Gln2146Ter) rs1596783639
NM_004380.3(CREBBP):c.6444C>T (p.Gly2148=) rs148539895
NM_004380.3(CREBBP):c.6449C>T (p.Pro2150Leu) rs587783512
NM_004380.3(CREBBP):c.662_698del (p.Gly221fs) rs1597053322
NM_004380.3(CREBBP):c.712G>C (p.Val238Leu) rs146887252
NM_004380.3(CREBBP):c.7162G>A (p.Ala2388Thr) rs756011865
NM_004380.3(CREBBP):c.7245C>T (p.Pro2415=) rs1555470758
NM_004380.3(CREBBP):c.7311G>T (p.Lys2437Asn) rs895608889
NM_004380.3(CREBBP):c.772A>G (p.Thr258Ala) rs1597053070
NM_004380.3(CREBBP):c.827_828dup (p.Gly277fs) rs797045502
NM_004380.3(CREBBP):c.85+1G>A rs1597099388
NM_004380.3(CREBBP):c.86-1G>T rs11644721
NM_004380.3(CREBBP):c.86-2A>C rs587783515
NM_004380.3(CREBBP):c.953C>A (p.Ser318Ter) rs587783516
NM_004380.3(CREBBP):c.967_974dup (p.Met325fs) rs1596984633
NM_004380.3(CREBBP):c.997G>T (p.Gly333Ter) rs1596948165

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