ClinVar Miner

List of variants in gene CREBBP reported as benign by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 48
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HGVS dbSNP
NM_001079846.1(CREBBP):c.1149G>A (p.Pro383=) rs61759495
NM_001079846.1(CREBBP):c.1537C>A (p.Leu513Ile) rs61753381
NM_001079846.1(CREBBP):c.1562+18A>T rs130018
NM_001079846.1(CREBBP):c.1839T>C (p.Tyr613=) rs130003
NM_001079846.1(CREBBP):c.2241_2252del (p.Ala749_Gln752del) rs755265819
NM_001079846.1(CREBBP):c.2458C>T (p.Pro820Ser) rs145733598
NM_001079846.1(CREBBP):c.2564C>T (p.Ser855Leu) rs142047649
NM_001079846.1(CREBBP):c.2614A>G (p.Thr872Ala) rs143247685
NM_001079846.1(CREBBP):c.2614A>T (p.Thr872Ser) rs143247685
NM_001079846.1(CREBBP):c.2827G>A (p.Ala943Thr) rs61753380
NM_001079846.1(CREBBP):c.2859C>T (p.Asp953=) rs142528559
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.333C>T (p.Asn111=) rs150229705
NM_001079846.1(CREBBP):c.3723-8C>T rs3025684
NM_001079846.1(CREBBP):c.4019+4A>G rs372126168
NM_001079846.1(CREBBP):c.459G>A (p.Pro153=) rs56388626
NM_001079846.1(CREBBP):c.4615-14G>C rs130008
NM_001079846.1(CREBBP):c.4708C>A (p.Pro1570Thr) rs73491901
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.5322C>G (p.Thr1774=) rs61731405
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.5605G>A (p.Ala1869Thr) rs199990883
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.5889T>C (p.Asn1963=) rs200998860
NM_001079846.1(CREBBP):c.6450G>A (p.Gln2150=) rs73491896
NM_001079846.1(CREBBP):c.6486_6497GCAGCAGCAACA[1] (p.Gln2175_Gln2178del) rs750150018
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.6507_6515del (p.Gln2176_Gln2178del) rs727503890
NM_001079846.1(CREBBP):c.6510A>C (p.Gln2170His) rs142545779
NM_001079846.1(CREBBP):c.6510A>G (p.Gln2170=) rs142545779
NM_001079846.1(CREBBP):c.6571G>A (p.Gly2191Ser) rs139688311
NM_001079846.1(CREBBP):c.6597C>T (p.Pro2199=) rs3751845
NM_001079846.1(CREBBP):c.6735C>T (p.Ser2245=) rs148904096
NM_001079846.1(CREBBP):c.681T>C (p.Pro227=)
NM_001079846.1(CREBBP):c.7098A>G (p.Glu2366=) rs55916120
NM_001079846.1(CREBBP):c.753T>G (p.Thr251=) rs142403441
NM_001079846.1(CREBBP):c.760G>A (p.Ala254Thr) rs148781922
NM_001079846.1(CREBBP):c.833A>C (p.Gln278Pro) rs577305576
NM_001079846.1(CREBBP):c.879G>A (p.Val293=) rs144344016
NM_001079846.1(CREBBP):c.939T>C (p.Asp313=) rs3025702
NM_004380.2(CREBBP):c.3370-5_3370-4delTT rs75459669

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