ClinVar Miner

List of variants in gene CREBBP, LOC130058357 studied for Rubinstein-Taybi syndrome due to CREBBP mutations

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Gene type: Distinguish antisense genes from sense genes
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_004380.3(CREBBP):c.62G>A (p.Gly21Asp)	rs1211983012	0.00001
NM_004380.3(CREBBP):c.37A>G (p.Lys13Glu)	rs587783484
NM_004380.3(CREBBP):c.47_48delinsT (p.Lys16fs)	rs2055490250

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