ClinVar Miner

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

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_004380.2(CREBBP):c.3490G>C (p.Ala1164Pro) rs797045492
NM_004380.2(CREBBP):c.3500A>G (p.Tyr1167Cys) rs587783481
NM_004380.2(CREBBP):c.37A>G (p.Lys13Glu) rs587783484
NM_004380.2(CREBBP):c.3914+3G>T rs587783485
NM_004380.2(CREBBP):c.4022G>C (p.Arg1341Pro) rs587783488
NM_004380.2(CREBBP):c.4226T>C (p.Phe1409Ser) rs587783492
NM_004380.2(CREBBP):c.4281-11C>G rs587783493
NM_004380.2(CREBBP):c.4281G>T (p.Arg1427Ser) rs797045494
NM_004380.2(CREBBP):c.4376A>G (p.Glu1459Gly) rs587783494
NM_004380.2(CREBBP):c.4445A>G (p.Tyr1482Cys) rs587783496
NM_004380.2(CREBBP):c.5039_5041del (p.Ser1680del) rs587783502
NM_004380.2(CREBBP):c.5050T>C (p.Ser1684Pro) rs587783503
NM_004380.2(CREBBP):c.5412C>A (p.His1804Gln) rs797045496
NM_004380.2(CREBBP):c.6130_6171del (p.Ala2044_Gln2057del) rs587783511

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