ClinVar Miner

List of variants in gene CREBBP studied for History of neurodevelopmental disorder

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Total variants: 105
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HGVS dbSNP
NM_001079846.1(CREBBP):c.1026A>G (p.Thr342=)
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.1618C>T (p.Pro540Ser) rs148023511
NM_001079846.1(CREBBP):c.1629T>G (p.Ala543=)
NM_001079846.1(CREBBP):c.1810G>A (p.Glu604Lys) rs1376477785
NM_001079846.1(CREBBP):c.1839T>C (p.Tyr613=) rs130003
NM_001079846.1(CREBBP):c.1949C>T (p.Pro650Leu)
NM_001079846.1(CREBBP):c.1953G>A (p.Gly651=)
NM_001079846.1(CREBBP):c.2004A>G (p.Gly668=)
NM_001079846.1(CREBBP):c.2205G>A (p.Pro735=)
NM_001079846.1(CREBBP):c.2368G>T (p.Ala790Ser)
NM_001079846.1(CREBBP):c.2458C>T (p.Pro820Ser) rs145733598
NM_001079846.1(CREBBP):c.2502G>A (p.Thr834=) rs781112420
NM_001079846.1(CREBBP):c.2533G>T (p.Ala845Ser) rs1216005413
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.2670G>A (p.Pro890=) rs3025694
NM_001079846.1(CREBBP):c.2697G>A (p.Pro899=) rs146168040
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.2889C>G (p.Thr963=)
NM_001079846.1(CREBBP):c.2907G>C (p.Glu969Asp)
NM_001079846.1(CREBBP):c.2915C>T (p.Pro972Leu) rs139896431
NM_001079846.1(CREBBP):c.293G>T (p.Gly98Val) rs141982003
NM_001079846.1(CREBBP):c.2975C>T (p.Ser992Phe) rs757051244
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.3125C>T (p.Pro1042Leu)
NM_001079846.1(CREBBP):c.3137-3C>T rs1215061668
NM_001079846.1(CREBBP):c.320C>G (p.Pro107Arg)
NM_001079846.1(CREBBP):c.333C>T (p.Asn111=) rs150229705
NM_001079846.1(CREBBP):c.3351C>T (p.Asp1117=) rs1447337021
NM_001079846.1(CREBBP):c.3717C>T (p.Pro1239=)
NM_001079846.1(CREBBP):c.3786C>A (p.Ile1262=) rs129974
NM_001079846.1(CREBBP):c.4036G>A (p.Glu1346Lys) rs1567272395
NM_001079846.1(CREBBP):c.4137C>T (p.Tyr1379=)
NM_001079846.1(CREBBP):c.414C>T (p.Ala138=)
NM_001079846.1(CREBBP):c.435C>T (p.Pro145=)
NM_001079846.1(CREBBP):c.4379G>A (p.Arg1460Gln) rs1567269945
NM_001079846.1(CREBBP):c.4380A>G (p.Arg1460=) rs149560660
NM_001079846.1(CREBBP):c.459G>A (p.Pro153=) rs56388626
NM_001079846.1(CREBBP):c.4708C>A (p.Pro1570Thr) rs73491901
NM_001079846.1(CREBBP):c.4830C>A (p.Pro1610=)
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.5118G>A (p.Lys1706=) rs1567263707
NM_001079846.1(CREBBP):c.5127G>T (p.Leu1709=)
NM_001079846.1(CREBBP):c.5157C>T (p.Gly1719=)
NM_001079846.1(CREBBP):c.5178C>T (p.Pro1726=) rs1567263591
NM_001079846.1(CREBBP):c.5232G>A (p.Ala1744=)
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.5552C>T (p.Pro1851Leu)
NM_001079846.1(CREBBP):c.5553G>A (p.Pro1851=)
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.5655C>T (p.Ser1885=)
NM_001079846.1(CREBBP):c.5715G>A (p.Pro1905=) rs546554430
NM_001079846.1(CREBBP):c.5751G>A (p.Ala1917=)
NM_001079846.1(CREBBP):c.5760G>C (p.Ala1920=)
NM_001079846.1(CREBBP):c.5784C>A (p.Ala1928=)
NM_001079846.1(CREBBP):c.5819A>G (p.Asn1940Ser) rs112906840
NM_001079846.1(CREBBP):c.5820C>T (p.Asn1940=) rs754282387
NM_001079846.1(CREBBP):c.5844G>A (p.Thr1948=)
NM_001079846.1(CREBBP):c.5859G>A (p.Pro1953=)
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.5919C>T (p.Pro1973=)
NM_001079846.1(CREBBP):c.594T>C (p.Ile198=) rs1376107928
NM_001079846.1(CREBBP):c.5957C>T (p.Ala1986Val) rs745551441
NM_001079846.1(CREBBP):c.6027C>T (p.Ala2009=)
NM_001079846.1(CREBBP):c.6051C>T (p.Ser2017=)
NM_001079846.1(CREBBP):c.6081C>T (p.Ser2027=)
NM_001079846.1(CREBBP):c.6226G>A (p.Gly2076Ser) rs139169188
NM_001079846.1(CREBBP):c.6288C>T (p.His2096=)
NM_001079846.1(CREBBP):c.6336G>A (p.Pro2112=)
NM_001079846.1(CREBBP):c.6340C>G (p.Pro2114Ala)
NM_001079846.1(CREBBP):c.6402C>T (p.Asn2134=) rs763852812
NM_001079846.1(CREBBP):c.6410A>G (p.Asn2137Ser) rs587778214
NM_001079846.1(CREBBP):c.6450G>A (p.Gln2150=) rs73491896
NM_001079846.1(CREBBP):c.6495A>G (p.Gln2165=) rs62636220
NM_001079846.1(CREBBP):c.6495delinsGCAG (p.Gln2178dup) rs1567260749
NM_001079846.1(CREBBP):c.6498_6500GCA[4] (p.Gln2178dup) rs779647460
NM_001079846.1(CREBBP):c.6507A>G (p.Gln2169=) rs55960450
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.6552_6563del (p.2182_2185GMAG[1]) rs778220523
NM_001079846.1(CREBBP):c.6570C>T (p.His2190=)
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.6706A>G (p.Met2236Val) rs1306100144
NM_001079846.1(CREBBP):c.6735C>T (p.Ser2245=) rs148904096
NM_001079846.1(CREBBP):c.675G>A (p.Pro225=)
NM_001079846.1(CREBBP):c.681T>C (p.Pro227=)
NM_001079846.1(CREBBP):c.7098A>G (p.Glu2366=) rs55916120
NM_001079846.1(CREBBP):c.7188G>A (p.Thr2396=) rs144609433
NM_001079846.1(CREBBP):c.760G>A (p.Ala254Thr) rs148781922
NM_001079846.1(CREBBP):c.895A>G (p.Ser299Gly) rs149961222
NM_001079846.1(CREBBP):c.939T>C (p.Asp313=) rs3025702
NM_004380.2(CREBBP):c.3370-4delT rs75459669
NM_004380.2(CREBBP):c.3370-4dup rs75459669
NM_004380.2(CREBBP):c.3370-5_3370-4delTT rs75459669

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