ClinVar Miner

List of variants studied for Rubinstein-Taybi syndrome due to CREBBP mutations by Genetic Services Laboratory, University of Chicago

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Total variants: 81
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HGVS dbSNP gnomAD frequency
NM_004380.3(CREBBP):c.1149G>A (p.Pro383=) rs61759495 0.00171
NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr) rs199990883 0.00120
NM_004380.3(CREBBP):c.5800T>C (p.Ser1934Pro) rs587783504 0.00030
NM_004380.3(CREBBP):c.164A>G (p.Asn55Ser) rs587783466 0.00004
NM_004380.3(CREBBP):c.2679G>A (p.Ser893=) rs587783474 0.00002
NM_004380.3(CREBBP):c.6449C>T (p.Pro2150Leu) rs587783512 0.00001
NM_004380.2(CREBBP):c.(?_-23)_85+?del
NM_004380.3(CREBBP):c.1063C>T (p.Gln355Ter) rs587783460
NM_004380.3(CREBBP):c.1156C>T (p.Arg386Ter) rs587783461
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.1590del (p.Asn530fs) rs587783465
NM_004380.3(CREBBP):c.1821del (p.Lys607fs) rs587783467
NM_004380.3(CREBBP):c.1955A>C (p.His652Pro) rs587783468
NM_004380.3(CREBBP):c.2026del (p.Gln676fs) rs587783469
NM_004380.3(CREBBP):c.2122_2123del (p.Leu708fs) rs587783470
NM_004380.3(CREBBP):c.2178dup (p.Met727fs) rs797045483
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.2606_2607del (p.Leu869fs) rs587783473
NM_004380.3(CREBBP):c.2679_2690delinsCC (p.Ser894fs) rs797045484
NM_004380.3(CREBBP):c.2791C>T (p.Gln931Ter) rs587783475
NM_004380.3(CREBBP):c.2810dup (p.Ser938fs) rs797045485
NM_004380.3(CREBBP):c.282dup (p.Val95fs) rs797045486
NM_004380.3(CREBBP):c.286C>T (p.Gln96Ter) rs587783476
NM_004380.3(CREBBP):c.299del (p.Gly100fs) rs587783477
NM_004380.3(CREBBP):c.2T>A (p.Met1Lys) rs797045487
NM_004380.3(CREBBP):c.3077_3085delinsAA (p.Leu1026_Ala1029delinsTer) rs797045488
NM_004380.3(CREBBP):c.316C>T (p.Gln106Ter) rs587783478
NM_004380.3(CREBBP):c.3310C>T (p.Gln1104Ter) rs587783479
NM_004380.3(CREBBP):c.3369+1G>T rs587783480
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.3500A>G (p.Tyr1167Cys) rs587783481
NM_004380.3(CREBBP):c.3613G>T (p.Glu1205Ter) rs587783482
NM_004380.3(CREBBP):c.3779+1G>A 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.3836+1G>A rs200782888
NM_004380.3(CREBBP):c.3914+1G>T rs1555475352
NM_004380.3(CREBBP):c.3914+3G>T rs587783485
NM_004380.3(CREBBP):c.3982+1G>A rs398124145
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.4045C>T (p.Gln1349Ter) rs587783489
NM_004380.3(CREBBP):c.4078C>T (p.Arg1360Ter) rs587783490
NM_004380.3(CREBBP):c.4133+1G>A rs587783491
NM_004380.3(CREBBP):c.4226T>C (p.Phe1409Ser) rs587783492
NM_004380.3(CREBBP):c.4281-11C>G rs587783493
NM_004380.3(CREBBP):c.4281G>T (p.Arg1427Ser) rs797045494
NM_004380.3(CREBBP):c.4376A>G (p.Glu1459Gly) rs587783494
NM_004380.3(CREBBP):c.4398T>A (p.Tyr1466Ter) rs147688139
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.4508A>G (p.Tyr1503Cys) rs587783497
NM_004380.3(CREBBP):c.4689del (p.Lys1565fs) rs587783499
NM_004380.3(CREBBP):c.4792del (p.Ser1598fs) rs587783500
NM_004380.3(CREBBP):c.4894T>C (p.Phe1632Leu) rs587783501
NM_004380.3(CREBBP):c.5027G>A (p.Trp1676Ter) rs797045495
NM_004380.3(CREBBP):c.5036CCT[1] (p.Ser1680del) rs587783502
NM_004380.3(CREBBP):c.5050T>C (p.Ser1684Pro) rs587783503
NM_004380.3(CREBBP):c.5412C>A (p.His1804Gln) rs797045496
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.5869del (p.Glu1957fs) rs587783508
NM_004380.3(CREBBP):c.5936_5937insT (p.Ser1980fs) rs797045498
NM_004380.3(CREBBP):c.598C>T (p.Gln200Ter) rs587783509
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.6130_6171del (p.Ala2044_Gln2057del) rs587783511
NM_004380.3(CREBBP):c.6395_6417dup (p.Gln2140fs) rs797045500
NM_004380.3(CREBBP):c.827_828dup (p.Gly277fs) rs797045502
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

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