ClinVar Miner

List of variants in gene CREBBP reported as pathogenic for central nervous system disorder

Included ClinVar conditions (2498):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 268
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 16p13.3(chr16:3784414-3821324)
GRCh37/hg19 16p13.3(chr16:3794894-3795355)
GRCh38/hg38 16p13.3(chr16:3818098-3858843)x1
NC_000016.10:g.(?_3727698)_(3793646_?)del
NC_000016.10:g.(?_3727698)_(3810799_?)del
NC_000016.10:g.(?_3757268)_(3757396_?)del
NC_000016.10:g.(?_3791961)_(3792114_?)del
NC_000016.10:g.(?_3810583)_(3879936_?)del
NC_000016.10:g.(?_3879812)_(3879936_?)del
NC_000016.9:g.(?_3781438)_(3788947_?)del
NC_000016.9:g.(?_3786017)_(3860800_?)del
NC_000016.9:g.(?_3799608)_(3821007_?)dup
NC_000016.9:g.(?_3817701)_(3817930_?)dup
NC_000016.9:g.(?_3817701)_(3860800_?)del
NC_000016.9:g.(?_3823732)_(3831327_?)del
NC_000016.9:g.(?_3827594)_(3832947_?)del
NC_000016.9:g.(?_3841962)_(3843647_?)del
NC_000016.9:g.(?_3900278)_(3901030_?)del
NC_000016.9:g.(?_3900278)_(3929917_?)del
NM_004380.2(CREBBP):c.[4112T>A;4118C>A]
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.1068del (p.Gln356fs)
NM_004380.3(CREBBP):c.1069C>T (p.Gln357Ter) rs121434625
NM_004380.3(CREBBP):c.1108C>T (p.Arg370Ter) rs1384496494
NM_004380.3(CREBBP):c.1124del (p.Gly375fs) rs1596947743
NM_004380.3(CREBBP):c.1127_1128dup (p.Val377fs) rs1596947732
NM_004380.3(CREBBP):c.1156C>T (p.Arg386Ter) rs587783461
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.1327C>T (p.Gln443Ter)
NM_004380.3(CREBBP):c.1360C>T (p.Gln454Ter) rs2053306001
NM_004380.3(CREBBP):c.1388_1395del (p.Gly463fs) rs2053305017
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.1519dup (p.Gln507fs)
NM_004380.3(CREBBP):c.1549C>T (p.Gln517Ter) rs1596920501
NM_004380.3(CREBBP):c.1562_1563del (p.Leu521fs) rs1567309482
NM_004380.3(CREBBP):c.1573+1G>A rs1596920360
NM_004380.3(CREBBP):c.1590del (p.Asn530fs) rs587783465
NM_004380.3(CREBBP):c.1612dup (p.Thr538fs)
NM_004380.3(CREBBP):c.1618C>T (p.Gln540Ter) rs398124138
NM_004380.3(CREBBP):c.1646C>G (p.Ser549Ter) rs1596917200
NM_004380.3(CREBBP):c.1663del (p.Leu555fs) rs2053266530
NM_004380.3(CREBBP):c.1676+2_1676+5del rs2141247044
NM_004380.3(CREBBP):c.173_185del (p.Asn58fs) rs1597054837
NM_004380.3(CREBBP):c.1821del (p.Lys607fs) rs587783467
NM_004380.3(CREBBP):c.1824-1G>A rs1596910004
NM_004380.3(CREBBP):c.1855dup (p.Ala619fs) rs1596909915
NM_004380.3(CREBBP):c.1867_1874del (p.Asp623fs)
NM_004380.3(CREBBP):c.1907_1912del (p.Val636_Glu637del) rs1596909791
NM_004380.3(CREBBP):c.1911del (p.Asp639fs) rs2141237372
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.1941+5G>A rs2053202354
NM_004380.3(CREBBP):c.1977C>A (p.Tyr659Ter) rs2053190428
NM_004380.3(CREBBP):c.2005_2006delinsT (p.Lys668_Arg669insTer) rs1596908213
NM_004380.3(CREBBP):c.201_202del (p.His67fs)
NM_004380.3(CREBBP):c.2026del (p.Gln676fs) rs587783469
NM_004380.3(CREBBP):c.2122_2123del (p.Leu708fs) rs587783470
NM_004380.3(CREBBP):c.2159-1G>T rs1596897799
NM_004380.3(CREBBP):c.2178dup (p.Met727fs) rs797045483
NM_004380.3(CREBBP):c.2233del (p.Ser745fs) rs2053092574
NM_004380.3(CREBBP):c.2302C>T (p.Arg768Ter) rs1057520652
NM_004380.3(CREBBP):c.2322del (p.Asn774fs) rs1596895545
NM_004380.3(CREBBP):c.2330del (p.Gly777fs) rs1596895500
NM_004380.3(CREBBP):c.2436_2437insGCTG (p.Pro813fs) rs2141214738
NM_004380.3(CREBBP):c.243_244insTA (p.Ile82Ter) rs1597054662
NM_004380.3(CREBBP):c.2456dup (p.Ser820fs) rs1596894889
NM_004380.3(CREBBP):c.2464-6T>A rs2052993184
NM_004380.3(CREBBP):c.2526_2529dup (p.Pro844fs)
NM_004380.3(CREBBP):c.2535C>A (p.Cys845Ter) rs587783471
NM_004380.3(CREBBP):c.2574dup (p.Pro859fs) rs2141203402
NM_004380.3(CREBBP):c.2606_2607del (p.Leu869fs) rs587783473
NM_004380.3(CREBBP):c.2679_2690delinsCC (p.Ser894fs) rs797045484
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.2755C>T (p.Gln919Ter) rs1596886183
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.2794del (p.Thr932fs) rs2052980008
NM_004380.3(CREBBP):c.2803C>T (p.Gln935Ter)
NM_004380.3(CREBBP):c.2810dup (p.Ser938fs) rs797045485
NM_004380.3(CREBBP):c.2817_2818delinsT (p.Ala940fs) rs1596885894
NM_004380.3(CREBBP):c.282dup (p.Val95fs) rs797045486
NM_004380.3(CREBBP):c.2836C>T (p.Gln946Ter)
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.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.3068del (p.Glu1023fs)
NM_004380.3(CREBBP):c.3077_3085delinsAA (p.Leu1026_Ala1029delinsTer) rs797045488
NM_004380.3(CREBBP):c.3097A>T (p.Lys1033Ter) rs1596878921
NM_004380.3(CREBBP):c.3099_3102del (p.Glu1034fs)
NM_004380.3(CREBBP):c.314_315del (p.Gly105fs) rs1597054430
NM_004380.3(CREBBP):c.3168dup (p.Val1057fs) rs1596878700
NM_004380.3(CREBBP):c.316C>T (p.Gln106Ter) rs587783478
NM_004380.3(CREBBP):c.3235C>T (p.Gln1079Ter)
NM_004380.3(CREBBP):c.3292del (p.Thr1097_Leu1098insTer) rs1596856390
NM_004380.3(CREBBP):c.3307C>T (p.Arg1103Ter)
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>A rs587783480
NM_004380.3(CREBBP):c.3369+1G>T rs587783480
NM_004380.3(CREBBP):c.3369+1del rs2151385509
NM_004380.3(CREBBP):c.3375T>G (p.Tyr1125Ter)
NM_004380.3(CREBBP):c.3425T>C (p.Leu1142Pro) rs2151383792
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.3494_3497dup (p.Tyr1167fs)
NM_004380.3(CREBBP):c.3524A>G (p.Tyr1175Cys) rs28937315
NM_004380.3(CREBBP):c.3598del (p.Cys1200fs) rs2052622209
NM_004380.3(CREBBP):c.3610-1G>A rs1596852670
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.3634_3638del (p.Cys1212fs) rs2052610724
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.3676del (p.Ala1226fs) rs2151381815
NM_004380.3(CREBBP):c.3690T>G (p.Tyr1230Ter) rs748451307
NM_004380.3(CREBBP):c.3699-1469_3836+1579del
NM_004380.3(CREBBP):c.3748_3749dup (p.Leu1251fs)
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>C rs587783483
NM_004380.3(CREBBP):c.3779+1G>T rs587783483
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.3977del (p.Ala1326fs) rs1567276741
NM_004380.3(CREBBP):c.3982+1G>A rs398124145
NM_004380.3(CREBBP):c.3983-2A>G rs587783486
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.4174C>T (p.Arg1392Ter) rs1596812306
NM_004380.3(CREBBP):c.4206del (p.Ile1402fs) rs1596812256
NM_004380.3(CREBBP):c.4230dup (p.Gly1411fs) rs1555473668
NM_004380.3(CREBBP):c.4232del (p.Gly1411fs)
NM_004380.3(CREBBP):c.4243C>T (p.Gln1415Ter) rs1596812202
NM_004380.3(CREBBP):c.4251C>G (p.Tyr1417Ter)
NM_004380.3(CREBBP):c.4290C>A (p.Tyr1430Ter) rs1596810465
NM_004380.3(CREBBP):c.4336C>T (p.Arg1446Cys) rs398124146
NM_004380.3(CREBBP):c.4340C>T (p.Thr1447Ile) rs2151334254
NM_004380.3(CREBBP):c.4394G>A (p.Gly1465Glu) rs1555473491
NM_004380.3(CREBBP):c.4398T>A (p.Tyr1466Ter) rs147688139
NM_004380.3(CREBBP):c.4404_4405del (p.Gly1469fs) rs2151330140
NM_004380.3(CREBBP):c.4404dup (p.Gly1469fs) rs2052073167
NM_004380.3(CREBBP):c.4444T>G (p.Tyr1482Asp) rs587783495
NM_004380.3(CREBBP):c.4457_4458del (p.Cys1486fs)
NM_004380.3(CREBBP):c.4458_4459insT (p.His1487fs) rs1596805807
NM_004380.3(CREBBP):c.4471C>T (p.Gln1491Ter)
NM_004380.3(CREBBP):c.4480C>T (p.Pro1494Ser) rs199817036
NM_004380.3(CREBBP):c.4482del (p.Lys1495fs)
NM_004380.3(CREBBP):c.4492C>T (p.Arg1498Ter) rs2052070776
NM_004380.3(CREBBP):c.4508A>G (p.Tyr1503Cys) rs587783497
NM_004380.3(CREBBP):c.4559A>G (p.Lys1520Arg) rs1596805575
NM_004380.3(CREBBP):c.4561-1G>A rs2151327974
NM_004380.3(CREBBP):c.4561-2A>T rs2151327978
NM_004380.3(CREBBP):c.4567_4568del (p.Phe1523fs)
NM_004380.3(CREBBP):c.4644_4645del (p.Leu1549fs) rs1555472938
NM_004380.3(CREBBP):c.4644_4646dup (p.Leu1549dup) rs1596804073
NM_004380.3(CREBBP):c.4650_4654del (p.Glu1551fs)
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.4672C>T (p.Gln1558Ter) rs778375586
NM_004380.3(CREBBP):c.4679_4683del (p.Glu1560fs) rs2151327706
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.4743del (p.Asp1581fs)
NM_004380.3(CREBBP):c.4792del (p.Ser1598fs) rs587783500
NM_004380.3(CREBBP):c.4890+1G>A rs1596793242
NM_004380.3(CREBBP):c.4944dup (p.Ile1649fs) rs2151317319
NM_004380.3(CREBBP):c.494_507del (p.Ser165fs) rs1597053795
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.5028G>A (p.Trp1676Ter) rs2051909999
NM_004380.3(CREBBP):c.5036CCT[1] (p.Ser1680del) rs587783502
NM_004380.3(CREBBP):c.508C>T (p.Gln170Ter) rs1555496560
NM_004380.3(CREBBP):c.5158T>C (p.Cys1720Arg) rs2051906390
NM_004380.3(CREBBP):c.5169C>G (p.Cys1723Trp) rs146718571
NM_004380.3(CREBBP):c.521del (p.Gly174fs)
NM_004380.3(CREBBP):c.5296_5297insCCCAC (p.Glu1766fs) rs2151311901
NM_004380.3(CREBBP):c.5555_5575del (p.Gln1852_Arg1858del) rs2151309803
NM_004380.3(CREBBP):c.5603G>A (p.Arg1868Gln) rs1567263168
NM_004380.3(CREBBP):c.5614A>G (p.Met1872Val) rs797045037
NM_004380.3(CREBBP):c.5638C>T (p.Gln1880Ter)
NM_004380.3(CREBBP):c.5641_5642del (p.Leu1882fs) rs1567263114
NM_004380.3(CREBBP):c.567del (p.Asn190fs) rs2054809165
NM_004380.3(CREBBP):c.5683C>T (p.Gln1895Ter)
NM_004380.3(CREBBP):c.5694_5703del (p.Ser1898fs) rs1555471323
NM_004380.3(CREBBP):c.5710C>T (p.Gln1904Ter) rs2151308835
NM_004380.3(CREBBP):c.5722del (p.Gln1908fs) rs1596786752
NM_004380.3(CREBBP):c.5782C>T (p.Gln1928Ter) rs2151308298
NM_004380.3(CREBBP):c.5790dup (p.Thr1931fs) rs1596786512
NM_004380.3(CREBBP):c.581del (p.Gly194fs) rs2141491677
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.5837del (p.Pro1946fs) rs587783507
NM_004380.3(CREBBP):c.5837dup (p.Pro1947fs) rs587783507
NM_004380.3(CREBBP):c.5845dup (p.Ala1949fs) rs1596786219
NM_004380.3(CREBBP):c.5856dup (p.Pro1953fs) rs1596786167
NM_004380.3(CREBBP):c.5869del (p.Glu1957fs) rs587783508
NM_004380.3(CREBBP):c.5902C>T (p.Gln1968Ter)
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.5991del (p.Pro1997_Val1998insTer)
NM_004380.3(CREBBP):c.6005_6006del (p.Val2002fs)
NM_004380.3(CREBBP):c.6088C>T (p.Gln2030Ter) rs587783510
NM_004380.3(CREBBP):c.6104del (p.Leu2035fs) rs2051830234
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.613C>T (p.Gln205Ter) rs1597053504
NM_004380.3(CREBBP):c.6221_6230del (p.Leu2074fs) rs1596784310
NM_004380.3(CREBBP):c.6227C>A (p.Ser2076Ter)
NM_004380.3(CREBBP):c.6238_6239del (p.Pro2080fs)
NM_004380.3(CREBBP):c.6244C>T (p.Gln2082Ter) rs1057518789
NM_004380.3(CREBBP):c.6307C>T (p.Gln2103Ter)
NM_004380.3(CREBBP):c.6324C>G (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.6404delinsTGC (p.Gln2135fs) rs2051819669
NM_004380.3(CREBBP):c.6436C>T (p.Gln2146Ter) rs1596783639
NM_004380.3(CREBBP):c.6466_6476del (p.Pro2156fs)
NM_004380.3(CREBBP):c.6587_6588dup (p.Leu2197fs)
NM_004380.3(CREBBP):c.662_698del (p.Gly221fs) rs1597053322
NM_004380.3(CREBBP):c.733C>T (p.Gln245Ter)
NM_004380.3(CREBBP):c.761_767del (p.Ala254fs)
NM_004380.3(CREBBP):c.802G>T (p.Gly268Ter) rs2053923868
NM_004380.3(CREBBP):c.827_828dup (p.Gly277fs) rs797045502
NM_004380.3(CREBBP):c.828_840del (p.Phe276fs)
NM_004380.3(CREBBP):c.85+2T>G
NM_004380.3(CREBBP):c.851del (p.Gly284fs)
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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