ClinVar Miner

List of variants reported as likely pathogenic for Rubinstein-Taybi syndrome 1 by Genetic Services Laboratory, University of Chicago

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Total variants: 14
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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.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.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.4262A>G (p.Glu1421Gly) rs587783494
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.5298C>A (p.His1766Gln) rs797045496
NM_001079846.1(CREBBP):c.6016_6057del (p.Ala2006_Gln2019del) rs587783511

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