ClinVar Miner

List of variants in gene CREBBP reported as benign by Ambry Genetics

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Total variants: 25
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HGVS dbSNP
NM_004380.2(CREBBP):c.1651C>A (p.Leu551Ile) rs61753381
NM_004380.2(CREBBP):c.1953T>C (p.Tyr651=) rs130003
NM_004380.2(CREBBP):c.2572C>T (p.Pro858Ser) rs145733598
NM_004380.2(CREBBP):c.2784G>A (p.Pro928=) rs3025694
NM_004380.2(CREBBP):c.293G>T (p.Gly98Val) rs141982003
NM_004380.2(CREBBP):c.2941G>A (p.Ala981Thr) rs61753380
NM_004380.2(CREBBP):c.2974G>A (p.Val992Ile) rs61731383
NM_004380.2(CREBBP):c.3128C>T (p.Ser1043Leu) rs61731376
NM_004380.2(CREBBP):c.3158C>T (p.Pro1053Leu) rs142008620
NM_004380.2(CREBBP):c.3370-4delT rs75459669
NM_004380.2(CREBBP):c.3370-5_3370-4delTT rs75459669
NM_004380.2(CREBBP):c.3900C>A (p.Ile1300=) rs129974
NM_004380.2(CREBBP):c.459G>A (p.Pro153=) rs56388626
NM_004380.2(CREBBP):c.5052C>T (p.Ser1684=) rs2072381
NM_004380.2(CREBBP):c.5115C>T (p.Tyr1705=) rs200287696
NM_004380.2(CREBBP):c.5454G>A (p.Val1818=) rs61754523
NM_004380.2(CREBBP):c.5670C>T (p.Pro1890=) rs115594471
NM_004380.2(CREBBP):c.5933A>G (p.Asn1978Ser) rs112906840
NM_004380.2(CREBBP):c.5988C>T (p.Ala1996=) rs181646656
NM_004380.2(CREBBP):c.6609A>G (p.Gln2203=) rs62636220
NM_004380.2(CREBBP):c.6621A>G (p.Gln2207=) rs55960450
NM_004380.2(CREBBP):c.6624A>G (p.Gln2208=) rs142545779
NM_004380.2(CREBBP):c.6711C>T (p.Pro2237=) rs3751845
NM_004380.2(CREBBP):c.7212A>G (p.Glu2404=) rs55916120
NM_004380.2(CREBBP):c.939T>C (p.Asp313=) rs3025702

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