List of variants reported as benign for Rubinstein-Taybi syndrome due to CREBBP mutations by Fulgent Genetics, Fulgent Genetics

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_004380.3(CREBBP):c.6609A>G (p.Gln2203=)	rs62636220	0.01025
NM_001429.4(EP300):c.631G>A (p.Gly211Ser)	rs142030651	0.00646
NM_004380.3(CREBBP):c.5988C>T (p.Ala1996=)	rs181646656	0.00612
NM_004380.3(CREBBP):c.2973C>T (p.Asp991=)	rs142528559	0.00233
NM_004380.3(CREBBP):c.1574-12C>T	rs185243405	0.00116
NM_004380.3(CREBBP):c.4350C>T (p.Tyr1450=)	rs144832179	0.00116

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