ClinVar Miner

List of variants in gene CREBBP reported as not provided for Rubinstein-Taybi syndrome due to CREBBP mutations

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_004380.3(CREBBP):c.2941G>A (p.Ala981Thr)	rs61753380	0.00307
NM_004380.3(CREBBP):c.6732G>A (p.Met2244Ile)	rs201356785	0.00006

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