ClinVar Miner

List of variants in gene CREBBP reported as benign for History of neurodevelopmental disorder

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Total variants: 25
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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.2458C>T (p.Pro820Ser) rs145733598
NM_001079846.1(CREBBP):c.2670G>A (p.Pro890=) rs3025694
NM_001079846.1(CREBBP):c.2827G>A (p.Ala943Thr) rs61753380
NM_001079846.1(CREBBP):c.2860G>A (p.Val954Ile) rs61731383
NM_001079846.1(CREBBP):c.293G>T (p.Gly98Val) rs141982003
NM_001079846.1(CREBBP):c.3014C>T (p.Ser1005Leu) rs61731376
NM_001079846.1(CREBBP):c.3044C>T (p.Pro1015Leu) rs142008620
NM_001079846.1(CREBBP):c.3256-4del rs75459669
NM_001079846.1(CREBBP):c.3256-5_3256-4del rs75459669
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.4938C>T (p.Ser1646=) rs2072381
NM_001079846.1(CREBBP):c.5001C>T (p.Tyr1667=) rs200287696
NM_001079846.1(CREBBP):c.5340G>A (p.Val1780=) rs61754523
NM_001079846.1(CREBBP):c.5556C>T (p.Pro1852=) rs115594471
NM_001079846.1(CREBBP):c.5819A>G (p.Asn1940Ser) rs112906840
NM_001079846.1(CREBBP):c.5874C>T (p.Ala1958=) rs181646656
NM_001079846.1(CREBBP):c.6495A>G (p.Gln2165=) rs62636220
NM_001079846.1(CREBBP):c.6507A>G (p.Gln2169=) rs55960450
NM_001079846.1(CREBBP):c.6510A>G (p.Gln2170=) rs142545779
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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