ClinVar Miner

List of variants studied for Rubinstein-Taybi syndrome due to CREBBP mutations by Daryl Scott Lab, Baylor College of Medicine

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_004380.3(CREBBP):c.2436_2437insGCTG (p.Pro813fs) rs2141214738
NM_004380.3(CREBBP):c.2891C>T (p.Ala964Val)
NM_004380.3(CREBBP):c.3779+1G>A rs587783483
NM_004380.3(CREBBP):c.5336T>C (p.Leu1779Pro) rs1064796457
NM_004380.3(CREBBP):c.5345C>T (p.Ala1782Val) rs2051858361
NM_004380.3(CREBBP):c.5790dup (p.Thr1931fs) rs1596786512
NM_004380.3(CREBBP):c.5991del (p.Pro1997_Val1998insTer)

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