ClinVar Miner

List of variants in gene CREBBP reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 143
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HGVS dbSNP gnomAD frequency
NM_004380.3(CREBBP):c.459G>A (p.Pro153=) rs56388626 0.01000
NM_004380.3(CREBBP):c.5454G>A (p.Val1818=) rs61754523 0.00785
NM_004380.3(CREBBP):c.5933A>G (p.Asn1978Ser) rs112906840 0.00438
NM_004380.3(CREBBP):c.333C>T (p.Asn111=) rs150229705 0.00320
NM_004380.3(CREBBP):c.2941G>A (p.Ala981Thr) rs61753380 0.00307
NM_004380.3(CREBBP):c.2572C>T (p.Pro858Ser) rs145733598 0.00287
NM_004380.3(CREBBP):c.2973C>T (p.Asp991=) rs142528559 0.00233
NM_004380.3(CREBBP):c.6003T>C (p.Asn2001=) rs200998860 0.00223
NM_004380.3(CREBBP):c.4822C>A (p.Pro1608Thr) rs73491901 0.00217
NM_004380.3(CREBBP):c.6564G>A (p.Gln2188=) rs73491896 0.00217
NM_004380.3(CREBBP):c.293G>T (p.Gly98Val) rs141982003 0.00206
NM_004380.3(CREBBP):c.1149G>A (p.Pro383=) rs61759495 0.00177
NM_004380.3(CREBBP):c.5436C>G (p.Thr1812=) rs61731405 0.00124
NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr) rs199990883 0.00113
NM_004380.3(CREBBP):c.5829G>A (p.Pro1943=) rs546554430 0.00103
NM_004380.3(CREBBP):c.7302G>A (p.Thr2434=) rs144609433 0.00103
NM_004380.3(CREBBP):c.3698+7G>A rs374345970 0.00070
NM_004380.3(CREBBP):c.383C>G (p.Ser128Cys) rs55790011 0.00069
NM_004380.3(CREBBP):c.4494A>G (p.Arg1498=) rs149560660 0.00064
NM_004380.3(CREBBP):c.760G>A (p.Ala254Thr) rs148781922 0.00051
NM_004380.3(CREBBP):c.2409C>T (p.Ser803=) rs139207930 0.00050
NM_004380.3(CREBBP):c.5865G>A (p.Ala1955=) rs554810606 0.00044
NM_004380.3(CREBBP):c.879G>A (p.Val293=) rs144344016 0.00041
NM_004380.3(CREBBP):c.6661A>C (p.Met2221Leu) rs200716582 0.00040
NM_004380.3(CREBBP):c.3158C>T (p.Pro1053Leu) rs142008620 0.00038
NM_004380.3(CREBBP):c.5800T>C (p.Ser1934Pro) rs587783504 0.00030
NM_004380.3(CREBBP):c.2811G>A (p.Pro937=) rs146168040 0.00029
NM_004380.3(CREBBP):c.3985C>T (p.Leu1329=) rs149055008 0.00029
NM_004380.3(CREBBP):c.5934C>T (p.Asn1978=) rs754282387 0.00023
NM_004380.3(CREBBP):c.1399G>A (p.Ala467Thr) rs202225861 0.00019
NM_004380.3(CREBBP):c.3750C>T (p.Thr1250=) rs199885110 0.00019
NM_004380.3(CREBBP):c.6138G>A (p.Ala2046=) rs371656213 0.00016
NM_004380.3(CREBBP):c.6090G>A (p.Gln2030=) rs374969185 0.00014
NM_004380.3(CREBBP):c.6444C>T (p.Gly2148=) rs148539895 0.00013
NM_004380.3(CREBBP):c.2526G>A (p.Gln842=) rs141775567 0.00012
NM_004380.3(CREBBP):c.3204C>T (p.Asn1068=) rs150189749 0.00009
NM_004380.3(CREBBP):c.1633T>C (p.Leu545=) rs371285951 0.00007
NM_004380.3(CREBBP):c.2439G>A (p.Pro813=) rs763702839 0.00007
NM_004380.3(CREBBP):c.6465T>G (p.Pro2155=) rs746868061 0.00007
NM_004380.3(CREBBP):c.7197C>T (p.His2399=) rs375864984 0.00007
NM_004380.3(CREBBP):c.2415G>A (p.Ala805=) rs368664039 0.00006
NM_004380.3(CREBBP):c.4956C>T (p.Pro1652=) rs139365408 0.00006
NM_004380.3(CREBBP):c.5361C>T (p.Asn1787=) rs375462934 0.00006
NM_004380.3(CREBBP):c.177T>A (p.Leu59=) rs201027381 0.00005
NM_004380.3(CREBBP):c.2668A>C (p.Thr890Pro) rs370012973 0.00004
NM_004380.3(CREBBP):c.6056G>T (p.Gly2019Val) rs771420935 0.00004
NM_004380.3(CREBBP):c.711C>T (p.Ser237=) rs146049063 0.00004
NM_004380.3(CREBBP):c.271G>T (p.Ala91Ser) rs200673670 0.00003
NM_004380.3(CREBBP):c.4948G>A (p.Val1650Ile) rs776549587 0.00003
NM_004380.3(CREBBP):c.5115C>T (p.Tyr1705=) rs200287696 0.00003
NM_004380.3(CREBBP):c.5958G>A (p.Thr1986=) rs774747147 0.00003
NM_004380.3(CREBBP):c.6516C>T (p.Asn2172=) rs763852812 0.00003
NM_004380.3(CREBBP):c.7125C>T (p.His2375=) rs746116315 0.00003
NM_004380.3(CREBBP):c.2615C>T (p.Thr872Met) rs747877878 0.00002
NM_004380.3(CREBBP):c.105C>G (p.Asp35Glu) rs372495787 0.00001
NM_004380.3(CREBBP):c.3828C>T (p.Asp1276=) rs745617177 0.00001
NM_004380.3(CREBBP):c.5356C>T (p.Arg1786Cys) rs1555471394 0.00001
NM_004380.3(CREBBP):c.5796G>A (p.Thr1932=) rs755609198 0.00001
NM_004380.3(CREBBP):c.6449C>T (p.Pro2150Leu) rs587783512 0.00001
NM_004380.3(CREBBP):c.6450G>A (p.Pro2150=) rs371497730 0.00001
NM_004380.3(CREBBP):c.6684C>T (p.His2228=) rs138613594 0.00001
NM_004380.3(CREBBP):c.1095T>C (p.His365=) rs565069106
NM_004380.3(CREBBP):c.1135G>T (p.Ala379Ser) rs1596947691
NM_004380.3(CREBBP):c.1509G>T (p.Gln503His)
NM_004380.3(CREBBP):c.1566C>T (p.Asn522=)
NM_004380.3(CREBBP):c.2068G>T (p.Ala690Ser) rs531539047
NM_004380.3(CREBBP):c.2077C>G (p.Pro693Ala)
NM_004380.3(CREBBP):c.2097A>G (p.Gln699=)
NM_004380.3(CREBBP):c.2236C>T (p.Pro746Ser) rs1178646853
NM_004380.3(CREBBP):c.2284-4G>C
NM_004380.3(CREBBP):c.2306T>A (p.Met769Lys)
NM_004380.3(CREBBP):c.2312A>G (p.Gln771Arg) rs147805823
NM_004380.3(CREBBP):c.234C>T (p.Ser78=)
NM_004380.3(CREBBP):c.2488C>T (p.Pro830Ser)
NM_004380.3(CREBBP):c.249_251delinsT (p.Pro84fs) rs2141495910
NM_004380.3(CREBBP):c.254G>A (p.Gly85Glu) rs2141495853
NM_004380.3(CREBBP):c.2631G>C (p.Met877Ile)
NM_004380.3(CREBBP):c.2641C>T (p.Gln881Ter)
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala) rs143247685
NM_004380.3(CREBBP):c.2728A>T (p.Thr910Ser) rs143247685
NM_004380.3(CREBBP):c.2735C>T (p.Thr912Ile) rs1567299077
NM_004380.3(CREBBP):c.2736C>T (p.Thr912=)
NM_004380.3(CREBBP):c.283G>A (p.Val95Met) rs756802946
NM_004380.3(CREBBP):c.2910C>T (p.Asn970=)
NM_004380.3(CREBBP):c.2980G>A (p.Val994Met)
NM_004380.3(CREBBP):c.2996C>T (p.Thr999Met)
NM_004380.3(CREBBP):c.3136A>G (p.Met1046Val)
NM_004380.3(CREBBP):c.3232T>C (p.Ser1078Pro)
NM_004380.3(CREBBP):c.3349C>T (p.Pro1117Ser)
NM_004380.3(CREBBP):c.3354G>C (p.Gln1118His) rs2052645597
NM_004380.3(CREBBP):c.3555T>C (p.Phe1185=) rs1350802127
NM_004380.3(CREBBP):c.3604C>T (p.Arg1202Cys)
NM_004380.3(CREBBP):c.3609+5A>G
NM_004380.3(CREBBP):c.3623dup (p.Gln1209fs) rs2052611239
NM_004380.3(CREBBP):c.3701A>G (p.Tyr1234Cys) rs2052480703
NM_004380.3(CREBBP):c.3889C>T (p.His1297Tyr) rs1057521558
NM_004380.3(CREBBP):c.3912A>G (p.Ser1304=)
NM_004380.3(CREBBP):c.4011C>G (p.His1337Gln)
NM_004380.3(CREBBP):c.412G>A (p.Ala138Thr)
NM_004380.3(CREBBP):c.4263C>T (p.Cys1421=)
NM_004380.3(CREBBP):c.4393G>A (p.Gly1465Arg) rs2052127299
NM_004380.3(CREBBP):c.4394G>A (p.Gly1465Glu) rs1555473491
NM_004380.3(CREBBP):c.4423C>T (p.Pro1475Ser)
NM_004380.3(CREBBP):c.444C>T (p.Ser148=) rs201974615
NM_004380.3(CREBBP):c.4459C>T (p.His1487Tyr) rs1057519207
NM_004380.3(CREBBP):c.4529C>T (p.Ala1510Val) rs780939128
NM_004380.3(CREBBP):c.4554C>G (p.Asp1518Glu)
NM_004380.3(CREBBP):c.4621del (p.Glu1541fs) rs2151327825
NM_004380.3(CREBBP):c.463G>A (p.Ala155Thr)
NM_004380.3(CREBBP):c.4728+8C>T
NM_004380.3(CREBBP):c.4989G>A (p.Gly1663=) rs1292162799
NM_004380.3(CREBBP):c.5011G>A (p.Ala1671Thr) rs2151316910
NM_004380.3(CREBBP):c.5088C>A (p.His1696Gln) rs1567265249
NM_004380.3(CREBBP):c.5173-633G>A
NM_004380.3(CREBBP):c.5218C>A (p.His1740Asn) rs1596788162
NM_004380.3(CREBBP):c.5439C>G (p.Asn1813Lys) rs372253007
NM_004380.3(CREBBP):c.5571C>T (p.His1857=)
NM_004380.3(CREBBP):c.5599C>T (p.Arg1867Trp) rs398124148
NM_004380.3(CREBBP):c.5602C>T (p.Arg1868Trp) rs886039491
NM_004380.3(CREBBP):c.5603G>A (p.Arg1868Gln) rs1567263168
NM_004380.3(CREBBP):c.5785C>A (p.Pro1929Thr)
NM_004380.3(CREBBP):c.5786C>A (p.Pro1929His)
NM_004380.3(CREBBP):c.5828C>T (p.Pro1943Leu)
NM_004380.3(CREBBP):c.589T>G (p.Leu197Val) rs2054808403
NM_004380.3(CREBBP):c.5996G>C (p.Ser1999Thr) rs2051834458
NM_004380.3(CREBBP):c.6109A>G (p.Arg2037Gly)
NM_004380.3(CREBBP):c.6303C>G (p.Ile2101Met)
NM_004380.3(CREBBP):c.6339C>T (p.Pro2113=)
NM_004380.3(CREBBP):c.6343A>G (p.Met2115Val)
NM_004380.3(CREBBP):c.6478G>A (p.Ala2160Thr)
NM_004380.3(CREBBP):c.6557A>T (p.Asn2186Ile) rs1358192617
NM_004380.3(CREBBP):c.6588G>T (p.Gln2196His)
NM_004380.3(CREBBP):c.6600GCAGCAGCAACA[1] (p.Gln2213_Gln2216del) rs750150018
NM_004380.3(CREBBP):c.6624A>C (p.Gln2208His) rs142545779
NM_004380.3(CREBBP):c.6700C>T (p.Pro2234Ser) rs759823393
NM_004380.3(CREBBP):c.6717C>T (p.Gly2239=)
NM_004380.3(CREBBP):c.6925G>A (p.Gly2309Ser) rs2151300466
NM_004380.3(CREBBP):c.7018A>C (p.Ser2340Arg)
NM_004380.3(CREBBP):c.7039G>A (p.Ala2347Thr) rs2151299673
NM_004380.3(CREBBP):c.7058G>A (p.Arg2353Gln)
NM_004380.3(CREBBP):c.7256C>T (p.Ala2419Val)
NM_004380.3(CREBBP):c.743C>T (p.Pro248Leu)
NM_004380.3(CREBBP):c.907A>G (p.Met303Val) rs1567331335

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