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

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
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.37A>G (p.Lys13Glu)	rs587783484
NM_004380.3(CREBBP):c.3914+3G>T	rs587783485
NM_004380.3(CREBBP):c.4022G>C (p.Arg1341Pro)	rs587783488
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.4445A>G (p.Tyr1482Cys)	rs587783496
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.6130_6171del (p.Ala2044_Gln2057del)	rs587783511

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