ClinVar Miner

List of variants in gene CREBBP reported as pathogenic by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 57
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HGVS dbSNP
NM_001079846.1(CREBBP):c.1063C>T (p.Gln355Ter) rs587783460
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.1476del (p.Asn492fs) rs587783465
NM_001079846.1(CREBBP):c.1707del (p.Lys569fs) rs587783467
NM_001079846.1(CREBBP):c.1912del (p.Gln638fs) rs587783469
NM_001079846.1(CREBBP):c.2008_2009del (p.Leu670fs) rs587783470
NM_001079846.1(CREBBP):c.2064dup (p.Met689fs) rs797045483
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.2565_2576delinsCC (p.Ser856fs) rs797045484
NM_001079846.1(CREBBP):c.2677C>T (p.Gln893Ter) rs587783475
NM_001079846.1(CREBBP):c.2696dup (p.Ser900fs) rs797045485
NM_001079846.1(CREBBP):c.282dup (p.Val95fs) rs797045486
NM_001079846.1(CREBBP):c.286C>T (p.Gln96Ter) rs587783476
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.316C>T (p.Gln106Ter) rs587783478
NM_001079846.1(CREBBP):c.3196C>T (p.Gln1066Ter) rs587783479
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.348_349dup (p.Ala117fs) rs797045491
NM_001079846.1(CREBBP):c.3499G>T (p.Glu1167Ter) rs587783482
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.3800+1G>T rs1555475352
NM_001079846.1(CREBBP):c.3868+1G>A rs398124145
NM_001079846.1(CREBBP):c.3869-2A>G rs587783486
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.4284T>A (p.Tyr1428Ter) rs147688139
NM_001079846.1(CREBBP):c.4330T>G (p.Tyr1444Asp) rs587783495
NM_001079846.1(CREBBP):c.4394A>G (p.Tyr1465Cys) rs587783497
NM_001079846.1(CREBBP):c.4575del (p.Lys1527fs) rs587783499
NM_001079846.1(CREBBP):c.4678del (p.Ser1560fs) rs587783500
NM_001079846.1(CREBBP):c.4913G>A (p.Trp1638Ter) rs797045495
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.5723del (p.Pro1908fs) rs587783507
NM_001079846.1(CREBBP):c.5723dup (p.Pro1909fs) rs587783507
NM_001079846.1(CREBBP):c.5755del (p.Glu1919fs) rs587783508
NM_001079846.1(CREBBP):c.5822_5823insT (p.Ser1942fs) rs797045498
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.6281_6303dup (p.Gln2102fs) rs797045500
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.953C>A (p.Ser318Ter) rs587783516
NM_004380.2(CREBBP):c.(?_-23)_85+?del

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