List of variants reported as likely pathogenic for Rubinstein-Taybi syndrome due to CREBBP mutations by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_004380.3(CREBBP):c.1094A>C (p.His365Pro)	rs2548464208
NM_004380.3(CREBBP):c.1930G>C (p.Ala644Pro)	rs2141237064
NM_004380.3(CREBBP):c.2031del (p.Ile678fs)	rs1555483716
NM_004380.3(CREBBP):c.4894T>G (p.Phe1632Val)	rs587783501
NM_004380.3(CREBBP):c.5186G>C (p.Cys1729Ser)	rs2051863859

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