ClinVar Miner

List of variants in gene CREBBP reported as benign for Rubinstein-Taybi syndrome 1

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Total variants: 12
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HGVS dbSNP
NM_001079846.1(CREBBP):c.1537C>A (p.Leu513Ile) rs61753381
NM_001079846.1(CREBBP):c.1839T>C (p.Tyr613=) rs130003
NM_001079846.1(CREBBP):c.2670G>A (p.Pro890=) rs3025694
NM_001079846.1(CREBBP):c.3584+7G>A rs374345970
NM_001079846.1(CREBBP):c.3786C>A (p.Ile1262=) rs129974
NM_001079846.1(CREBBP):c.459G>A (p.Pro153=) rs56388626
NM_001079846.1(CREBBP):c.5605G>A (p.Ala1869Thr) rs199990883
NM_001079846.1(CREBBP):c.5874C>T (p.Ala1958=) rs181646656
NM_001079846.1(CREBBP):c.6507A>G (p.Gln2169=) rs55960450
NM_001079846.1(CREBBP):c.6597C>T (p.Pro2199=) rs3751845
NM_001079846.1(CREBBP):c.7098A>G (p.Glu2366=) rs55916120
NM_001079846.1(CREBBP):c.939T>C (p.Asp313=) rs3025702

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