ClinVar Miner

List of variants in gene CREBBP reported as likely pathogenic for Rubinstein-Taybi syndrome 1

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Total variants: 29
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HGVS dbSNP
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
NM_001079846.1(CREBBP):c.1917del (p.Ile640fs) rs1555483716
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.37A>G (p.Lys13Glu) rs587783484
NM_001079846.1(CREBBP):c.3800+3G>T rs587783485
NM_001079846.1(CREBBP):c.3908G>C (p.Arg1303Pro) rs587783488
NM_001079846.1(CREBBP):c.4020-1G>T rs886041048
NM_001079846.1(CREBBP):c.4112T>C (p.Phe1371Ser) rs587783492
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>T (p.Arg1408Cys) rs398124146
NM_001079846.1(CREBBP):c.4262A>G (p.Glu1421Gly) rs587783494
NM_001079846.1(CREBBP):c.4322_4324del (p.Gly1441del) rs1555473122
NM_001079846.1(CREBBP):c.4331A>G (p.Tyr1444Cys) rs587783496
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.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.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.7147_*247delinsC (p.Ser2383_Ter2405delinsXaa) rs1555470631
NM_004380.2(CREBBP):c.1738G>A (p.Ala580Thr)

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