ClinVar Miner

List of variants in gene CREBBP studied for abdominal and pelvic region disorder

Included ClinVar conditions (913):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 180
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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.(?_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
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>G (p.Arg1408Gly) rs398124146
NM_001079846.1(CREBBP):c.4222C>T (p.Arg1408Cys) rs398124146
NM_001079846.1(CREBBP):c.4223G>A (p.Arg1408His) rs1057519884
NM_001079846.1(CREBBP):c.4223G>T (p.Arg1408Leu) rs1057519884
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_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

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