List of variants reported as likely pathogenic for Rubinstein-Taybi syndrome due to CREBBP mutations by 3billion, Medical Genetics

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_004380.3(CREBBP):c.2113+1G>C
NM_004380.3(CREBBP):c.3370-2A>G	rs866703165
NM_004380.3(CREBBP):c.3418del (p.Arg1140fs)	rs2151383848
NM_004380.3(CREBBP):c.3983-1G>C	rs2151341377
NM_004380.3(CREBBP):c.4439A>G (p.Asp1480Gly)	rs886041286
NM_004380.3(CREBBP):c.4894TTC[1] (p.Phe1633del)	rs1555471931
NM_004380.3(CREBBP):c.6241C>T (p.Gln2081Ter)	rs886041518
NM_004380.3(CREBBP):c.6250C>T (p.Gln2084Ter)	rs2051825168

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