List of variants in gene CREBBP reported as likely benign for Rubinstein-Taybi syndrome due to CREBBP mutations

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_004380.3(CREBBP):c.2678C>T (p.Ser893Leu)	rs142047649	0.00102
NM_004380.3(CREBBP):c.5776C>G (p.Arg1926Gly)	rs778915687	0.00013
NM_004380.3(CREBBP):c.271G>T (p.Ala91Ser)	rs200673670	0.00003
NM_004380.3(CREBBP):c.1627C>G (p.Pro543Ala)	rs947001316	0.00001
NM_004380.3(CREBBP):c.3252C>T (p.Ile1084=)	rs190925539	0.00001
NM_004380.3(CREBBP):c.1090G>C (p.Ala364Pro)
NM_004380.3(CREBBP):c.2170T>C (p.Phe724Leu)
NM_004380.3(CREBBP):c.2383_2400dup (p.Pro795_Pro800dup)	rs1596895167
NM_004380.3(CREBBP):c.258A>G (p.Ile86Met)	rs2054819160
NM_004380.3(CREBBP):c.3749C>A (p.Thr1250Asn)
NM_004380.3(CREBBP):c.3946G>A (p.Gly1316Ser)
NM_004380.3(CREBBP):c.4208A>G (p.Asp1403Gly)
NM_004380.3(CREBBP):c.5763C>G (p.Phe1921Leu)	rs2051845365
NM_004380.3(CREBBP):c.712G>C (p.Val238Leu)	rs146887252
NM_004380.3(CREBBP):c.758A>G (p.His253Arg)	rs142268920
NM_004380.3(CREBBP):c.998G>A (p.Gly333Glu)	rs2053548814

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