List of variants in gene CREBBP reported as pathogenic for Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1

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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: 3

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HGVS	dbSNP	gnomAD frequency
NM_004380.3(CREBBP):c.3779+1G>A	rs587783483
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys)	rs267606752
NM_004380.3(CREBBP):c.904_905del (p.Ser302fs)

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