ClinVar Miner

List of variants in gene CREBBP reported by Division of Genomic Diagnostics,The Children's Hospital of Philadelphia

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Total variants: 4
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HGVS dbSNP
NM_001079846.1(CREBBP):c.1537C>A (p.Leu513Ile) rs61753381
NM_001079846.1(CREBBP):c.5501T>C (p.Met1834Thr) rs879255381
NM_001079846.1(CREBBP):c.5605G>A (p.Ala1869Thr) rs199990883
NM_004380.2(CREBBP):c.3370-4delT rs75459669

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