ClinVar Miner

List of variants reported as likely pathogenic for Rubinstein-Taybi syndrome due to CREBBP mutations by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_004380.3(CREBBP):c.1511_1517del (p.Val504fs)
NM_004380.3(CREBBP):c.2689C>T (p.Gln897Ter)
NM_004380.3(CREBBP):c.4067_4071del (p.Glu1356fs)	rs2548370412

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