List of variants reported as likely benign for Rubinstein-Taybi syndrome due to CREBBP mutations by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_004380.3(CREBBP):c.1627C>G (p.Pro543Ala)	rs947001316	0.00001
NM_004380.3(CREBBP):c.1090G>C (p.Ala364Pro)	rs2141285841
NM_004380.3(CREBBP):c.3749C>A (p.Thr1250Asn)	rs1567282634
NM_004380.3(CREBBP):c.3946G>A (p.Gly1316Ser)	rs776643295

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