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

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_004380.3(CREBBP):c.3499del (p.Tyr1167fs)
NM_004380.3(CREBBP):c.3517C>T (p.Arg1173Ter)	rs2151383341
NM_004380.3(CREBBP):c.406C>T (p.Gln136Ter)	rs121434624
NM_004380.3(CREBBP):c.4251C>G (p.Tyr1417Ter)	rs61731412
NM_004380.3(CREBBP):c.4336C>T (p.Arg1446Cys)	rs398124146
NM_004380.3(CREBBP):c.4395-3_4395-1delinsTCAC	rs2548364207
NM_004380.3(CREBBP):c.5036CCT[1] (p.Ser1680del)	rs587783502
NM_004380.3(CREBBP):c.5683C>T (p.Gln1895Ter)	rs2151309006
NM_004380.3(CREBBP):c.6005_6006del (p.Val2002fs)	rs2548347574

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