ClinVar Miner

List of variants in gene CREBBP reported as likely benign for central nervous system disorder

Included ClinVar conditions (2490):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 593
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HGVS dbSNP gnomAD frequency
NM_004380.3(CREBBP):c.7212A>G (p.Glu2404=) rs55916120 0.01802
NM_004380.3(CREBBP):c.3128C>T (p.Ser1043Leu) rs61731376 0.01088
NM_004380.3(CREBBP):c.6849C>T (p.Ser2283=) rs148904096 0.00267
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.4133+4A>G rs372126168 0.00124
NM_004380.3(CREBBP):c.2678C>T (p.Ser893Leu) rs142047649 0.00102
NM_004380.3(CREBBP):c.895A>G (p.Ser299Gly) rs149961222 0.00084
NM_004380.3(CREBBP):c.3698+7G>A rs374345970 0.00070
NM_004380.3(CREBBP):c.4494A>G (p.Arg1498=) rs149560660 0.00064
NM_004380.3(CREBBP):c.4133+9G>A rs376602227 0.00063
NM_004380.3(CREBBP):c.2409C>T (p.Ser803=) rs139207930 0.00050
NM_004380.3(CREBBP):c.5886C>T (p.Ile1962=) rs370565083 0.00049
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.4119C>T (p.Pro1373=) rs3025679 0.00038
NM_004380.3(CREBBP):c.458C>T (p.Pro153Leu) rs146538907 0.00038
NM_004380.3(CREBBP):c.3982+9C>T rs114668693 0.00031
NM_004380.3(CREBBP):c.2616G>A (p.Thr872=) rs781112420 0.00030
NM_004380.3(CREBBP):c.5800T>C (p.Ser1934Pro) rs587783504 0.00030
NM_004380.3(CREBBP):c.2239A>G (p.Met747Val) rs142932907 0.00029
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.4251C>T (p.Tyr1417=) rs61731412 0.00024
NM_004380.3(CREBBP):c.4560+14A>G rs200934101 0.00021
NM_004380.3(CREBBP):c.1399G>A (p.Ala467Thr) rs202225861 0.00019
NM_004380.3(CREBBP):c.5991C>T (p.Pro1997=) rs201101808 0.00019
NM_004380.3(CREBBP):c.905G>A (p.Ser302Asn) rs200154055 0.00019
NM_004380.3(CREBBP):c.6165C>T (p.Ser2055=) rs368704484 0.00017
NM_004380.3(CREBBP):c.6340G>A (p.Gly2114Ser) rs139169188 0.00017
NM_004380.3(CREBBP):c.6138G>A (p.Ala2046=) rs371656213 0.00016
NM_004380.3(CREBBP):c.2846C>T (p.Pro949Leu) rs147083140 0.00015
NM_004380.3(CREBBP):c.5874G>C (p.Ala1958=) rs373950003 0.00015
NM_004380.3(CREBBP):c.833A>C (p.Gln278Pro) rs577305576 0.00015
NM_004380.3(CREBBP):c.3841G>A (p.Val1281Ile) rs201874248 0.00014
NM_004380.3(CREBBP):c.3089C>T (p.Ser1030Phe) rs757051244 0.00013
NM_004380.3(CREBBP):c.4280+8T>C rs376814421 0.00013
NM_004380.3(CREBBP):c.5776C>G (p.Arg1926Gly) rs778915687 0.00013
NM_004380.3(CREBBP):c.6656C>T (p.Ala2219Val) rs150461438 0.00013
NM_004380.3(CREBBP):c.2526G>A (p.Gln842=) rs141775567 0.00012
NM_004380.3(CREBBP):c.5271C>T (p.Gly1757=) rs190121951 0.00010
NM_004380.3(CREBBP):c.1143G>A (p.Ser381=) rs147342740 0.00009
NM_004380.3(CREBBP):c.2118A>G (p.Gly706=) rs778065124 0.00009
NM_004380.3(CREBBP):c.3204C>T (p.Asn1068=) rs150189749 0.00009
NM_004380.3(CREBBP):c.5334G>A (p.Ser1778=) rs201062642 0.00009
NM_004380.3(CREBBP):c.6324C>T (p.Tyr2108=) rs199821421 0.00009
NM_004380.3(CREBBP):c.681T>C (p.Pro227=) rs201193684 0.00009
NM_004380.3(CREBBP):c.7184T>C (p.Ile2395Thr) rs759047530 0.00009
NM_004380.3(CREBBP):c.164A>G (p.Asn55Ser) rs587783466 0.00008
NM_004380.3(CREBBP):c.4560+9C>T rs201631062 0.00008
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.3301C>T (p.Leu1101=) rs766505219 0.00007
NM_004380.3(CREBBP):c.3370-17A>T rs767500889 0.00007
NM_004380.3(CREBBP):c.3982+10G>A rs370093745 0.00007
NM_004380.3(CREBBP):c.5172+19C>G rs371471977 0.00007
NM_004380.3(CREBBP):c.5922G>A (p.Arg1974=) rs202099897 0.00007
NM_004380.3(CREBBP):c.6465T>G (p.Pro2155=) rs746868061 0.00007
NM_004380.3(CREBBP):c.7194A>G (p.Gly2398=) rs773968231 0.00007
NM_004380.3(CREBBP):c.7197C>T (p.His2399=) rs375864984 0.00007
NM_004380.3(CREBBP):c.2364C>T (p.Pro788=) rs201070000 0.00006
NM_004380.3(CREBBP):c.2415G>A (p.Ala805=) rs368664039 0.00006
NM_004380.3(CREBBP):c.3029C>T (p.Pro1010Leu) rs139896431 0.00006
NM_004380.3(CREBBP):c.435C>T (p.Pro145=) rs201435679 0.00006
NM_004380.3(CREBBP):c.4560+6C>T rs369973805 0.00006
NM_004380.3(CREBBP):c.4956C>T (p.Pro1652=) rs139365408 0.00006
NM_004380.3(CREBBP):c.7011G>A (p.Thr2337=) rs377692518 0.00006
NM_004380.3(CREBBP):c.7293G>A (p.Thr2431=) rs587783514 0.00006
NM_004380.3(CREBBP):c.1514C>T (p.Pro505Leu) rs369550568 0.00005
NM_004380.3(CREBBP):c.1854C>T (p.Pro618=) rs61754522 0.00005
NM_004380.3(CREBBP):c.6195C>T (p.Ser2065=) rs374150949 0.00005
NM_004380.3(CREBBP):c.7272G>T (p.Leu2424=) rs375448134 0.00005
NM_004380.3(CREBBP):c.1275T>C (p.His425=) rs758886547 0.00004
NM_004380.3(CREBBP):c.2413G>A (p.Ala805Thr) rs370128808 0.00004
NM_004380.3(CREBBP):c.2438C>T (p.Pro813Leu) rs150767375 0.00004
NM_004380.3(CREBBP):c.2598G>T (p.Met866Ile) rs771016864 0.00004
NM_004380.3(CREBBP):c.2668A>C (p.Thr890Pro) rs370012973 0.00004
NM_004380.3(CREBBP):c.3060+9C>T rs372291994 0.00004
NM_004380.3(CREBBP):c.4837G>A (p.Val1613Met) rs766085073 0.00004
NM_004380.3(CREBBP):c.594T>C (p.Ile198=) rs1376107928 0.00004
NM_004380.3(CREBBP):c.6056G>T (p.Gly2019Val) rs771420935 0.00004
NM_004380.3(CREBBP):c.6723A>G (p.Pro2241=) rs769325049 0.00004
NM_004380.3(CREBBP):c.6795G>A (p.Ala2265=) rs748072121 0.00004
NM_004380.3(CREBBP):c.711C>T (p.Ser237=) rs146049063 0.00004
NM_004380.3(CREBBP):c.7236G>A (p.Leu2412=) rs745992971 0.00004
NM_004380.3(CREBBP):c.1026A>G (p.Thr342=) rs751666077 0.00003
NM_004380.3(CREBBP):c.1995A>G (p.Leu665=) rs1028648371 0.00003
NM_004380.3(CREBBP):c.2400G>A (p.Pro800=) rs756570921 0.00003
NM_004380.3(CREBBP):c.271G>T (p.Ala91Ser) rs200673670 0.00003
NM_004380.3(CREBBP):c.4560+7G>C rs587783498 0.00003
NM_004380.3(CREBBP):c.4674A>G (p.Gln1558=) rs770241645 0.00003
NM_004380.3(CREBBP):c.5115C>T (p.Tyr1705=) rs200287696 0.00003
NM_004380.3(CREBBP):c.5169C>T (p.Cys1723=) rs146718571 0.00003
NM_004380.3(CREBBP):c.5740G>A (p.Val1914Met) rs760771706 0.00003
NM_004380.3(CREBBP):c.5970C>T (p.Thr1990=) rs773118274 0.00003
NM_004380.3(CREBBP):c.6006G>T (p.Val2002=) rs768100377 0.00003
NM_004380.3(CREBBP):c.6549G>A (p.Ala2183=) rs1348561145 0.00003
NM_004380.3(CREBBP):c.675G>A (p.Pro225=) rs140708841 0.00003
NM_004380.3(CREBBP):c.701C>T (p.Ala234Val) rs727503892 0.00003
NM_004380.3(CREBBP):c.7125C>T (p.His2375=) rs746116315 0.00003
NM_004380.3(CREBBP):c.1331-4A>G rs756291909 0.00002
NM_004380.3(CREBBP):c.2193C>T (p.Asn731=) rs746813014 0.00002
NM_004380.3(CREBBP):c.2410G>A (p.Gly804Arg) rs754981072 0.00002
NM_004380.3(CREBBP):c.2464-7C>G rs772258017 0.00002
NM_004380.3(CREBBP):c.2482G>T (p.Ala828Ser) rs779000839 0.00002
NM_004380.3(CREBBP):c.3021G>C (p.Glu1007Asp) rs774653315 0.00002
NM_004380.3(CREBBP):c.4394+8T>C rs750961246 0.00002
NM_004380.3(CREBBP):c.4419C>T (p.Ala1473=) rs370689343 0.00002
NM_004380.3(CREBBP):c.4812C>T (p.Asn1604=) rs762565460 0.00002
NM_004380.3(CREBBP):c.6658G>A (p.Gly2220Ser) rs141184151 0.00002
NM_004380.3(CREBBP):c.7116G>A (p.Ser2372=) rs758454751 0.00002
NM_004380.3(CREBBP):c.759C>T (p.His253=) rs548980748 0.00002
NM_004380.3(CREBBP):c.1089T>C (p.His363=) rs969407052 0.00001
NM_004380.3(CREBBP):c.1331-12T>C rs779542354 0.00001
NM_004380.3(CREBBP):c.1520A>G (p.Gln507Arg) rs766320521 0.00001
NM_004380.3(CREBBP):c.1627C>G (p.Pro543Ala) rs947001316 0.00001
NM_004380.3(CREBBP):c.2043C>T (p.Asn681=) rs555628489 0.00001
NM_004380.3(CREBBP):c.2064G>A (p.Pro688=) rs766050154 0.00001
NM_004380.3(CREBBP):c.2557C>A (p.Leu853Met) rs542970560 0.00001
NM_004380.3(CREBBP):c.2626G>A (p.Gly876Arg) rs746552957 0.00001
NM_004380.3(CREBBP):c.2823C>T (p.Thr941=) rs762072105 0.00001
NM_004380.3(CREBBP):c.2943A>G (p.Ala981=) rs1053049323 0.00001
NM_004380.3(CREBBP):c.320C>T (p.Pro107Leu) rs766844540 0.00001
NM_004380.3(CREBBP):c.3252C>T (p.Ile1084=) rs190925539 0.00001
NM_004380.3(CREBBP):c.3465C>T (p.Asp1155=) rs1447337021 0.00001
NM_004380.3(CREBBP):c.3576C>G (p.Val1192=) rs775872294 0.00001
NM_004380.3(CREBBP):c.3828C>T (p.Asp1276=) rs745617177 0.00001
NM_004380.3(CREBBP):c.3836+7A>T rs1259742748 0.00001
NM_004380.3(CREBBP):c.3837-18G>A rs780739661 0.00001
NM_004380.3(CREBBP):c.4344C>T (p.Ala1448=) rs777425519 0.00001
NM_004380.3(CREBBP):c.4992C>T (p.Arg1664=) rs756979739 0.00001
NM_004380.3(CREBBP):c.501C>T (p.Ala167=) rs376613398 0.00001
NM_004380.3(CREBBP):c.5709G>A (p.Pro1903=) rs773624477 0.00001
NM_004380.3(CREBBP):c.5836C>G (p.Pro1946Ala) rs1321085895 0.00001
NM_004380.3(CREBBP):c.6054C>T (p.Pro2018=) rs768626011 0.00001
NM_004380.3(CREBBP):c.6126G>T (p.Met2042Ile) rs1052723403 0.00001
NM_004380.3(CREBBP):c.6228G>A (p.Ser2076=) rs759497776 0.00001
NM_004380.3(CREBBP):c.6279C>T (p.Asn2093=) rs762700575 0.00001
NM_004380.3(CREBBP):c.6282G>A (p.Pro2094=) rs772950054 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.651C>T (p.Gly217=) rs375403937 0.00001
NM_004380.3(CREBBP):c.6684C>T (p.His2228=) rs138613594 0.00001
NM_004380.3(CREBBP):c.7239C>T (p.Asn2413=) rs757539209 0.00001
NM_004380.3(CREBBP):c.825A>C (p.Pro275=) rs370509157 0.00001
NM_004380.3(CREBBP):c.960C>T (p.Thr320=) rs898885851 0.00001
NM_004380.3(CREBBP):c.975+14G>A rs535745718 0.00001
NM_004380.3(CREBBP):c.1008C>A (p.Pro336=)
NM_004380.3(CREBBP):c.1032C>T (p.Pro344=) rs1439239512
NM_004380.3(CREBBP):c.1090G>C (p.Ala364Pro)
NM_004380.3(CREBBP):c.1092T>C (p.Ala364=)
NM_004380.3(CREBBP):c.1095T>C (p.His365=) rs565069106
NM_004380.3(CREBBP):c.1104G>A (p.Gln368=)
NM_004380.3(CREBBP):c.1119A>T (p.Ala373=)
NM_004380.3(CREBBP):c.1122C>T (p.Asn374=)
NM_004380.3(CREBBP):c.1146C>T (p.Leu382=)
NM_004380.3(CREBBP):c.1155T>C (p.Cys385=)
NM_004380.3(CREBBP):c.1161C>T (p.Thr387=)
NM_004380.3(CREBBP):c.1188G>A (p.Thr396=)
NM_004380.3(CREBBP):c.1217-16G>A
NM_004380.3(CREBBP):c.1217-17T>C
NM_004380.3(CREBBP):c.1217-19G>A
NM_004380.3(CREBBP):c.1217-20C>T
NM_004380.3(CREBBP):c.1217-4A>G
NM_004380.3(CREBBP):c.1217-7G>A rs2053519519
NM_004380.3(CREBBP):c.1217-7G>T
NM_004380.3(CREBBP):c.1233T>C (p.Ser411=)
NM_004380.3(CREBBP):c.1330+16G>A
NM_004380.3(CREBBP):c.1331-12_1331-9del rs765955245
NM_004380.3(CREBBP):c.1331-24CTGT[2]
NM_004380.3(CREBBP):c.1331-24CTGT[4]
NM_004380.3(CREBBP):c.1331-7G>A
NM_004380.3(CREBBP):c.1416C>T (p.Asn472=)
NM_004380.3(CREBBP):c.1455T>C (p.Tyr485=)
NM_004380.3(CREBBP):c.1493C>T (p.Thr498Met)
NM_004380.3(CREBBP):c.1500G>A (p.Leu500=)
NM_004380.3(CREBBP):c.1551G>A (p.Gln517=)
NM_004380.3(CREBBP):c.1557G>A (p.Arg519=)
NM_004380.3(CREBBP):c.1566C>T (p.Asn522=)
NM_004380.3(CREBBP):c.1574-14T>C
NM_004380.3(CREBBP):c.1574-15_1574-11del
NM_004380.3(CREBBP):c.1574-17C>A
NM_004380.3(CREBBP):c.1574-17C>G
NM_004380.3(CREBBP):c.1605A>C (p.Gly535=)
NM_004380.3(CREBBP):c.1614A>G (p.Thr538=)
NM_004380.3(CREBBP):c.1665G>T (p.Leu555=)
NM_004380.3(CREBBP):c.1676+11G>C
NM_004380.3(CREBBP):c.1676+13_1676+14insA
NM_004380.3(CREBBP):c.1676+9C>T
NM_004380.3(CREBBP):c.1677-13A>G
NM_004380.3(CREBBP):c.1677-18T>C
NM_004380.3(CREBBP):c.1677-4T>G
NM_004380.3(CREBBP):c.1750T>C (p.Ser584Pro)
NM_004380.3(CREBBP):c.175C>T (p.Leu59Phe)
NM_004380.3(CREBBP):c.1824-19_1824-16del
NM_004380.3(CREBBP):c.189T>C (p.Ala63=)
NM_004380.3(CREBBP):c.1941+11G>A
NM_004380.3(CREBBP):c.1941+8G>T
NM_004380.3(CREBBP):c.1942-11T>C
NM_004380.3(CREBBP):c.1942-13T>C
NM_004380.3(CREBBP):c.1942-5T>C rs1482514446
NM_004380.3(CREBBP):c.2013G>A (p.Ser671=)
NM_004380.3(CREBBP):c.204A>G (p.Lys68=)
NM_004380.3(CREBBP):c.2056C>A (p.Pro686Thr)
NM_004380.3(CREBBP):c.2113+11T>C
NM_004380.3(CREBBP):c.2113+13T>C
NM_004380.3(CREBBP):c.2113+19A>G
NM_004380.3(CREBBP):c.2113+20C>T
NM_004380.3(CREBBP):c.2114-14T>C
NM_004380.3(CREBBP):c.2114-5C>A
NM_004380.3(CREBBP):c.213G>A (p.Ser71=)
NM_004380.3(CREBBP):c.2158+14T>C
NM_004380.3(CREBBP):c.2158+18G>A
NM_004380.3(CREBBP):c.2158+19T>C
NM_004380.3(CREBBP):c.2159-12G>A
NM_004380.3(CREBBP):c.2159-15T>C
NM_004380.3(CREBBP):c.2159-19G>A
NM_004380.3(CREBBP):c.2159-20C>T
NM_004380.3(CREBBP):c.2169A>T (p.Ser723=)
NM_004380.3(CREBBP):c.2224C>T (p.Arg742Cys)
NM_004380.3(CREBBP):c.222A>G (p.Leu74=)
NM_004380.3(CREBBP):c.225A>C (p.Arg75=)
NM_004380.3(CREBBP):c.2283+11T>C
NM_004380.3(CREBBP):c.2283+16C>T
NM_004380.3(CREBBP):c.2283+18C>G
NM_004380.3(CREBBP):c.2284-5C>T
NM_004380.3(CREBBP):c.2284-7C>T
NM_004380.3(CREBBP):c.2303G>A (p.Arg768Gln) rs754386072
NM_004380.3(CREBBP):c.234C>T (p.Ser78=)
NM_004380.3(CREBBP):c.235G>A (p.Gly79Ser)
NM_004380.3(CREBBP):c.2360C>T (p.Ala787Val)
NM_004380.3(CREBBP):c.2383_2400dup (p.Pro795_Pro800dup) rs1596895167
NM_004380.3(CREBBP):c.2388G>A (p.Gln796=)
NM_004380.3(CREBBP):c.2415G>C (p.Ala805=)
NM_004380.3(CREBBP):c.2450C>T (p.Thr817Ile)
NM_004380.3(CREBBP):c.2463+17G>A
NM_004380.3(CREBBP):c.2464-17_2464-16del
NM_004380.3(CREBBP):c.2464-19C>G
NM_004380.3(CREBBP):c.2466A>G (p.Gly822=)
NM_004380.3(CREBBP):c.246C>T (p.Ile82=)
NM_004380.3(CREBBP):c.2497C>T (p.Leu833Phe)
NM_004380.3(CREBBP):c.24A>G (p.Gly8=)
NM_004380.3(CREBBP):c.2501A>G (p.Asn834Ser)
NM_004380.3(CREBBP):c.2502C>T (p.Asn834=)
NM_004380.3(CREBBP):c.2511G>T (p.Gly837=)
NM_004380.3(CREBBP):c.2523C>T (p.Ser841=)
NM_004380.3(CREBBP):c.252A>G (p.Pro84=) rs727503893
NM_004380.3(CREBBP):c.2537C>T (p.Pro846Leu)
NM_004380.3(CREBBP):c.2556A>G (p.Pro852=)
NM_004380.3(CREBBP):c.255A>G (p.Gly85=)
NM_004380.3(CREBBP):c.2561A>C (p.His854Pro)
NM_004380.3(CREBBP):c.2571G>A (p.Pro857=)
NM_004380.3(CREBBP):c.2571G>T (p.Pro857=)
NM_004380.3(CREBBP):c.258A>G (p.Ile86Met) rs2054819160
NM_004380.3(CREBBP):c.2596A>G (p.Met866Val)
NM_004380.3(CREBBP):c.2601A>G (p.Pro867=)
NM_004380.3(CREBBP):c.2664A>G (p.Pro888=)
NM_004380.3(CREBBP):c.2697C>T (p.Pro899=) rs747968181
NM_004380.3(CREBBP):c.2703G>A (p.Pro901=)
NM_004380.3(CREBBP):c.2715A>G (p.Ser905=)
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.273C>T (p.Ala91=)
NM_004380.3(CREBBP):c.274A>G (p.Ser92Gly)
NM_004380.3(CREBBP):c.2778G>T (p.Val926=)
NM_004380.3(CREBBP):c.2783C>T (p.Pro928Leu)
NM_004380.3(CREBBP):c.2788C>T (p.Pro930Ser)
NM_004380.3(CREBBP):c.278G>A (p.Ser93Asn)
NM_004380.3(CREBBP):c.282C>T (p.Pro94=)
NM_004380.3(CREBBP):c.283G>A (p.Val95Met) rs756802946
NM_004380.3(CREBBP):c.2847G>A (p.Pro949=)
NM_004380.3(CREBBP):c.2849C>A (p.Thr950Lys)
NM_004380.3(CREBBP):c.2851C>A (p.Pro951Thr)
NM_004380.3(CREBBP):c.2854G>T (p.Val952Leu)
NM_004380.3(CREBBP):c.2880+17_2880+18del
NM_004380.3(CREBBP):c.2881-14C>G
NM_004380.3(CREBBP):c.2881-14C>T
NM_004380.3(CREBBP):c.2881-17T>C
NM_004380.3(CREBBP):c.2881-18C>A
NM_004380.3(CREBBP):c.2881-4A>G
NM_004380.3(CREBBP):c.2928C>T (p.Ser976=)
NM_004380.3(CREBBP):c.2934G>T (p.Val978=)
NM_004380.3(CREBBP):c.3003C>T (p.Thr1001=)
NM_004380.3(CREBBP):c.3025G>T (p.Asp1009Tyr)
NM_004380.3(CREBBP):c.3036A>T (p.Glu1012Asp)
NM_004380.3(CREBBP):c.3061-12G>A
NM_004380.3(CREBBP):c.3061-19C>G
NM_004380.3(CREBBP):c.3061-6C>G
NM_004380.3(CREBBP):c.309T>C (p.Ala103=)
NM_004380.3(CREBBP):c.3129A>G (p.Ser1043=)
NM_004380.3(CREBBP):c.3214T>G (p.Ser1072Ala)
NM_004380.3(CREBBP):c.3219G>A (p.Gln1073=)
NM_004380.3(CREBBP):c.3223A>G (p.Thr1075Ala)
NM_004380.3(CREBBP):c.3234G>T (p.Ser1078=)
NM_004380.3(CREBBP):c.3250+11T>C
NM_004380.3(CREBBP):c.3250+15C>T
NM_004380.3(CREBBP):c.3250+16A>T
NM_004380.3(CREBBP):c.3251-13G>A
NM_004380.3(CREBBP):c.3251-19C>T
NM_004380.3(CREBBP):c.3251-8C>G
NM_004380.3(CREBBP):c.3336G>A (p.Arg1112=)
NM_004380.3(CREBBP):c.3370-10T>A
NM_004380.3(CREBBP):c.3370-18C>A
NM_004380.3(CREBBP):c.3370-4del rs75459669
NM_004380.3(CREBBP):c.3370-5_3370-4del rs75459669
NM_004380.3(CREBBP):c.3384C>T (p.Ile1128=)
NM_004380.3(CREBBP):c.3438A>G (p.Gln1146=)
NM_004380.3(CREBBP):c.3468C>T (p.Asp1156=)
NM_004380.3(CREBBP):c.346A>G (p.Ser116Gly) rs587778211
NM_004380.3(CREBBP):c.3516C>T (p.Ser1172=) rs2151383343
NM_004380.3(CREBBP):c.351C>T (p.Ala117=)
NM_004380.3(CREBBP):c.3531T>C (p.Phe1177=)
NM_004380.3(CREBBP):c.3573T>C (p.Pro1191=) rs536159666
NM_004380.3(CREBBP):c.3591A>T (p.Gly1197=)
NM_004380.3(CREBBP):c.3609+20C>T
NM_004380.3(CREBBP):c.3610-14C>T
NM_004380.3(CREBBP):c.3615G>A (p.Glu1205=)
NM_004380.3(CREBBP):c.3639C>T (p.Cys1213=)
NM_004380.3(CREBBP):c.3659C>T (p.Thr1220Ile)
NM_004380.3(CREBBP):c.3698+11A>G
NM_004380.3(CREBBP):c.3708C>T (p.Phe1236=)
NM_004380.3(CREBBP):c.3729G>A (p.Glu1243=)
NM_004380.3(CREBBP):c.375G>A (p.Gln125=)
NM_004380.3(CREBBP):c.3765T>G (p.Pro1255=)
NM_004380.3(CREBBP):c.3779+10G>A
NM_004380.3(CREBBP):c.3780-12T>C
NM_004380.3(CREBBP):c.3804A>G (p.Glu1268=)
NM_004380.3(CREBBP):c.3836+15A>G
NM_004380.3(CREBBP):c.3837-19C>T
NM_004380.3(CREBBP):c.3883G>A (p.Val1295Ile)
NM_004380.3(CREBBP):c.390C>T (p.Ala130=)
NM_004380.3(CREBBP):c.3914+11T>A
NM_004380.3(CREBBP):c.3914+11T>G
NM_004380.3(CREBBP):c.3914+13C>T
NM_004380.3(CREBBP):c.3914+20C>T
NM_004380.3(CREBBP):c.3915-15A>G
NM_004380.3(CREBBP):c.3915-20A>C
NM_004380.3(CREBBP):c.3918T>C (p.Phe1306=)
NM_004380.3(CREBBP):c.3925G>A (p.Asp1309Asn)
NM_004380.3(CREBBP):c.3946G>A (p.Gly1316Ser)
NM_004380.3(CREBBP):c.3978T>C (p.Ala1326=) rs2151353919
NM_004380.3(CREBBP):c.3982+14A>C
NM_004380.3(CREBBP):c.3982+15del
NM_004380.3(CREBBP):c.3982+19T>C
NM_004380.3(CREBBP):c.3983-17C>G
NM_004380.3(CREBBP):c.3983-4del
NM_004380.3(CREBBP):c.3983-7T>C
NM_004380.3(CREBBP):c.4011C>T (p.His1337=)
NM_004380.3(CREBBP):c.4062C>T (p.Ala1354=)
NM_004380.3(CREBBP):c.4063G>A (p.Gly1355Arg)
NM_004380.3(CREBBP):c.4068G>A (p.Glu1356=)
NM_004380.3(CREBBP):c.4110G>A (p.Glu1370=)
NM_004380.3(CREBBP):c.4119C>G (p.Pro1373=)
NM_004380.3(CREBBP):c.4133+20A>G
NM_004380.3(CREBBP):c.4133+6TG[4]
NM_004380.3(CREBBP):c.4133+7G>A
NM_004380.3(CREBBP):c.4158T>A (p.Ser1386=)
NM_004380.3(CREBBP):c.4161A>G (p.Glu1387=)
NM_004380.3(CREBBP):c.4170A>G (p.Pro1390=)
NM_004380.3(CREBBP):c.4185T>C (p.Ala1395=)
NM_004380.3(CREBBP):c.4208A>G (p.Asp1403Gly)
NM_004380.3(CREBBP):c.4240G>A (p.Val1414Ile)
NM_004380.3(CREBBP):c.4263C>T (p.Cys1421=)
NM_004380.3(CREBBP):c.4266C>G (p.Pro1422=)
NM_004380.3(CREBBP):c.4277C>T (p.Thr1426Met)
NM_004380.3(CREBBP):c.4278G>A (p.Thr1426=)
NM_004380.3(CREBBP):c.4280+20del
NM_004380.3(CREBBP):c.4281-19A>G
NM_004380.3(CREBBP):c.4296T>G (p.Ser1432=)
NM_004380.3(CREBBP):c.4299T>C (p.Tyr1433=)
NM_004380.3(CREBBP):c.4311T>A (p.Ile1437=)
NM_004380.3(CREBBP):c.4329T>A (p.Arg1443=)
NM_004380.3(CREBBP):c.432C>T (p.Thr144=)
NM_004380.3(CREBBP):c.4332C>T (p.Cys1444=)
NM_004380.3(CREBBP):c.435C>G (p.Pro145=)
NM_004380.3(CREBBP):c.436G>A (p.Ala146Thr)
NM_004380.3(CREBBP):c.4371T>C (p.Tyr1457=)
NM_004380.3(CREBBP):c.4392A>G (p.Leu1464=)
NM_004380.3(CREBBP):c.4394+9G>C
NM_004380.3(CREBBP):c.4395-13G>T rs761012080
NM_004380.3(CREBBP):c.4395-14C>T
NM_004380.3(CREBBP):c.4395-6C>T rs2151330246
NM_004380.3(CREBBP):c.4440T>C (p.Asp1480=)
NM_004380.3(CREBBP):c.4452C>T (p.Phe1484=)
NM_004380.3(CREBBP):c.4530G>A (p.Ala1510=)
NM_004380.3(CREBBP):c.4530G>T (p.Ala1510=)
NM_004380.3(CREBBP):c.4548C>T (p.Ile1516=)
NM_004380.3(CREBBP):c.4560+10G>A
NM_004380.3(CREBBP):c.4560+11C>A
NM_004380.3(CREBBP):c.4560+20G>T
NM_004380.3(CREBBP):c.4561-20_4561-19del
NM_004380.3(CREBBP):c.4561-7C>T
NM_004380.3(CREBBP):c.4561-9C>T
NM_004380.3(CREBBP):c.4578A>C (p.Ala1526=)
NM_004380.3(CREBBP):c.459G>C (p.Pro153=)
NM_004380.3(CREBBP):c.4626T>C (p.Gly1542=)
NM_004380.3(CREBBP):c.463G>A (p.Ala155Thr)
NM_004380.3(CREBBP):c.4641T>C (p.Asn1547=)
NM_004380.3(CREBBP):c.4662G>A (p.Lys1554=)
NM_004380.3(CREBBP):c.4683G>A (p.Glu1561=)
NM_004380.3(CREBBP):c.4695G>A (p.Lys1565=)
NM_004380.3(CREBBP):c.4722C>T (p.Thr1574=)
NM_004380.3(CREBBP):c.4729-12G>A
NM_004380.3(CREBBP):c.4729-13C>T
NM_004380.3(CREBBP):c.4729-17C>T
NM_004380.3(CREBBP):c.4729-18C>G
NM_004380.3(CREBBP):c.4735C>G (p.Gln1579Glu) rs746079826
NM_004380.3(CREBBP):c.4737G>A (p.Gln1579=)
NM_004380.3(CREBBP):c.4764G>A (p.Lys1588=)
NM_004380.3(CREBBP):c.4795A>G (p.Ser1599Gly)
NM_004380.3(CREBBP):c.4836C>T (p.Asn1612=)
NM_004380.3(CREBBP):c.4844A>G (p.Asn1615Ser)
NM_004380.3(CREBBP):c.4861C>T (p.Leu1621=)
NM_004380.3(CREBBP):c.4866T>C (p.Tyr1622=)
NM_004380.3(CREBBP):c.4890+17G>A
NM_004380.3(CREBBP):c.4890+8T>C
NM_004380.3(CREBBP):c.4891-12C>T
NM_004380.3(CREBBP):c.4891-17C>T
NM_004380.3(CREBBP):c.4891-6C>T
NM_004380.3(CREBBP):c.4891-8T>C
NM_004380.3(CREBBP):c.4893C>A (p.Val1631=)
NM_004380.3(CREBBP):c.4899C>T (p.Phe1633=)
NM_004380.3(CREBBP):c.4926C>T (p.Val1642=)
NM_004380.3(CREBBP):c.4929C>T (p.Ile1643=)
NM_004380.3(CREBBP):c.4944C>A (p.Pro1648=) rs375829291
NM_004380.3(CREBBP):c.4962C>G (p.Pro1654=)
NM_004380.3(CREBBP):c.4992C>G (p.Arg1664=)
NM_004380.3(CREBBP):c.4995C>T (p.Asp1665=)
NM_004380.3(CREBBP):c.5010C>G (p.Leu1670=)
NM_004380.3(CREBBP):c.5010C>T (p.Leu1670=)
NM_004380.3(CREBBP):c.5034C>T (p.Phe1678=)
NM_004380.3(CREBBP):c.503C>T (p.Thr168Met)
NM_004380.3(CREBBP):c.5049C>T (p.Arg1683=)
NM_004380.3(CREBBP):c.504G>C (p.Thr168=)
NM_004380.3(CREBBP):c.5064G>A (p.Thr1688=)
NM_004380.3(CREBBP):c.5091C>G (p.Thr1697=)
NM_004380.3(CREBBP):c.510G>A (p.Gln170=)
NM_004380.3(CREBBP):c.5127G>A (p.Glu1709=)
NM_004380.3(CREBBP):c.5133G>A (p.Lys1711=)
NM_004380.3(CREBBP):c.5139C>T (p.His1713=)
NM_004380.3(CREBBP):c.5148G>A (p.Thr1716=)
NM_004380.3(CREBBP):c.5148G>C (p.Thr1716=) rs376575063
NM_004380.3(CREBBP):c.5163T>C (p.Thr1721=)
NM_004380.3(CREBBP):c.5172+13C>A
NM_004380.3(CREBBP):c.5173-10T>G
NM_004380.3(CREBBP):c.5184C>T (p.Leu1728=) rs759268055
NM_004380.3(CREBBP):c.5205G>A (p.Thr1735=)
NM_004380.3(CREBBP):c.5232G>A (p.Lys1744=) rs1567263707
NM_004380.3(CREBBP):c.5241G>T (p.Leu1747=) rs932933039
NM_004380.3(CREBBP):c.5286G>A (p.Lys1762=)
NM_004380.3(CREBBP):c.529A>G (p.Met177Val)
NM_004380.3(CREBBP):c.5334G>T (p.Ser1778=)
NM_004380.3(CREBBP):c.5364C>T (p.Ala1788=)
NM_004380.3(CREBBP):c.5374C>T (p.Leu1792=)
NM_004380.3(CREBBP):c.5403G>A (p.Val1801=)
NM_004380.3(CREBBP):c.5403G>T (p.Val1801=)
NM_004380.3(CREBBP):c.5415C>T (p.Thr1805=)
NM_004380.3(CREBBP):c.5418G>A (p.Lys1806=)
NM_004380.3(CREBBP):c.5439C>T (p.Asn1813=)
NM_004380.3(CREBBP):c.5451G>A (p.Pro1817=)
NM_004380.3(CREBBP):c.5571C>T (p.His1857=)
NM_004380.3(CREBBP):c.5592C>A (p.Leu1864=)
NM_004380.3(CREBBP):c.5592C>T (p.Leu1864=)
NM_004380.3(CREBBP):c.569A>G (p.Asn190Ser)
NM_004380.3(CREBBP):c.5715C>A (p.Pro1905=)
NM_004380.3(CREBBP):c.5730A>G (p.Gln1910=)
NM_004380.3(CREBBP):c.5763C>G (p.Phe1921Leu) rs2051845365
NM_004380.3(CREBBP):c.5790C>G (p.Pro1930=)
NM_004380.3(CREBBP):c.5790C>T (p.Pro1930=)
NM_004380.3(CREBBP):c.5817C>A (p.Thr1939=)
NM_004380.3(CREBBP):c.5841C>T (p.Pro1947=)
NM_004380.3(CREBBP):c.5874G>A (p.Ala1958=)
NM_004380.3(CREBBP):c.5886C>A (p.Ile1962=) rs370565083
NM_004380.3(CREBBP):c.5887G>A (p.Glu1963Lys)
NM_004380.3(CREBBP):c.5910G>A (p.Gln1970=)
NM_004380.3(CREBBP):c.5910G>T (p.Gln1970His)
NM_004380.3(CREBBP):c.5919C>T (p.Tyr1973=)
NM_004380.3(CREBBP):c.5922G>T (p.Arg1974=)
NM_004380.3(CREBBP):c.5934C>G (p.Asn1978Lys)
NM_004380.3(CREBBP):c.5940C>T (p.Ser1980=)
NM_004380.3(CREBBP):c.5956A>G (p.Thr1986Ala)
NM_004380.3(CREBBP):c.5957C>T (p.Thr1986Met)
NM_004380.3(CREBBP):c.6033C>T (p.Pro2011=) rs763241697
NM_004380.3(CREBBP):c.6034G>A (p.Val2012Ile)
NM_004380.3(CREBBP):c.6045C>T (p.Ser2015=)
NM_004380.3(CREBBP):c.6077T>A (p.Leu2026His)
NM_004380.3(CREBBP):c.6102C>T (p.Gly2034=)
NM_004380.3(CREBBP):c.6110G>A (p.Arg2037Lys)
NM_004380.3(CREBBP):c.6130G>A (p.Ala2044Thr)
NM_004380.3(CREBBP):c.6131C>T (p.Ala2044Val)
NM_004380.3(CREBBP):c.6138G>T (p.Ala2046=)
NM_004380.3(CREBBP):c.615G>A (p.Gln205=)
NM_004380.3(CREBBP):c.6186C>T (p.Ile2062=)
NM_004380.3(CREBBP):c.6216G>A (p.Arg2072=)
NM_004380.3(CREBBP):c.6237C>T (p.Ser2079=)
NM_004380.3(CREBBP):c.6273A>G (p.Lys2091=)
NM_004380.3(CREBBP):c.6303C>T (p.Ile2101=)
NM_004380.3(CREBBP):c.6315A>G (p.Thr2105=)
NM_004380.3(CREBBP):c.6327G>C (p.Val2109=)
NM_004380.3(CREBBP):c.6339C>T (p.Pro2113=)
NM_004380.3(CREBBP):c.6343A>G (p.Met2115Val)
NM_004380.3(CREBBP):c.6372G>A (p.Gln2124=)
NM_004380.3(CREBBP):c.6378C>A (p.Gly2126=)
NM_004380.3(CREBBP):c.6391C>T (p.Pro2131Ser)
NM_004380.3(CREBBP):c.6417G>A (p.Leu2139=)
NM_004380.3(CREBBP):c.6419A>G (p.Gln2140Arg)
NM_004380.3(CREBBP):c.6432C>T (p.Ala2144=)
NM_004380.3(CREBBP):c.6433A>T (p.Met2145Leu)
NM_004380.3(CREBBP):c.6453G>C (p.Arg2151=)
NM_004380.3(CREBBP):c.6456C>T (p.Pro2152=)
NM_004380.3(CREBBP):c.6457G>A (p.Gly2153Ser)
NM_004380.3(CREBBP):c.6478G>A (p.Ala2160Thr)
NM_004380.3(CREBBP):c.6480G>A (p.Ala2160=)
NM_004380.3(CREBBP):c.6480G>T (p.Ala2160=)
NM_004380.3(CREBBP):c.6510C>G (p.Ala2170=)
NM_004380.3(CREBBP):c.6510C>T (p.Ala2170=)
NM_004380.3(CREBBP):c.6536A>C (p.Asn2179Thr)
NM_004380.3(CREBBP):c.6548C>T (p.Ala2183Val)
NM_004380.3(CREBBP):c.6585G>A (p.Arg2195=)
NM_004380.3(CREBBP):c.6600GCAGCAGCAACA[1] (p.Gln2213_Gln2216del) rs750150018
NM_004380.3(CREBBP):c.6603G>A (p.Gln2201=)
NM_004380.3(CREBBP):c.6612GCA[4] (p.Gln2216dup) rs779647460
NM_004380.3(CREBBP):c.6621_6629del (p.Gln2214_Gln2216del) rs727503890
NM_004380.3(CREBBP):c.6624A>G (p.Gln2208=) rs142545779
NM_004380.3(CREBBP):c.6624_6635del (p.Gln2213_Gln2216del) rs763108828
NM_004380.3(CREBBP):c.6633A>G (p.Gln2211=)
NM_004380.3(CREBBP):c.6657C>T (p.Ala2219=)
NM_004380.3(CREBBP):c.6671G>C (p.Gly2224Ala)
NM_004380.3(CREBBP):c.6745C>T (p.Arg2249Cys)
NM_004380.3(CREBBP):c.6763C>T (p.Pro2255Ser)
NM_004380.3(CREBBP):c.6765C>G (p.Pro2255=)
NM_004380.3(CREBBP):c.6777C>T (p.Ser2259=)
NM_004380.3(CREBBP):c.6834G>A (p.Gly2278=) rs372866305
NM_004380.3(CREBBP):c.6855C>G (p.Pro2285=)
NM_004380.3(CREBBP):c.685C>T (p.Pro229Ser)
NM_004380.3(CREBBP):c.6864G>A (p.Gln2288=)
NM_004380.3(CREBBP):c.6886C>T (p.Leu2296=)
NM_004380.3(CREBBP):c.6969A>G (p.Gly2323=)
NM_004380.3(CREBBP):c.6972G>A (p.Gln2324=)
NM_004380.3(CREBBP):c.6997C>A (p.Gln2333Lys)
NM_004380.3(CREBBP):c.7002G>C (p.Gln2334His) rs2051794294
NM_004380.3(CREBBP):c.7005C>T (p.Ile2335=)
NM_004380.3(CREBBP):c.7006G>A (p.Ala2336Thr)
NM_004380.3(CREBBP):c.700G>A (p.Ala234Thr)
NM_004380.3(CREBBP):c.7011G>C (p.Thr2337=)
NM_004380.3(CREBBP):c.702C>T (p.Ala234=)
NM_004380.3(CREBBP):c.7030C>T (p.Arg2344Trp)
NM_004380.3(CREBBP):c.7041C>T (p.Ala2347=)
NM_004380.3(CREBBP):c.7062C>T (p.Pro2354=)
NM_004380.3(CREBBP):c.7107C>G (p.Pro2369=)
NM_004380.3(CREBBP):c.712G>A (p.Val238Met) rs146887252
NM_004380.3(CREBBP):c.712G>C (p.Val238Leu) rs146887252
NM_004380.3(CREBBP):c.7146C>T (p.Ser2382=)
NM_004380.3(CREBBP):c.7149C>A (p.Pro2383=)
NM_004380.3(CREBBP):c.7155C>T (p.Pro2385=) rs763948946
NM_004380.3(CREBBP):c.7161C>G (p.Leu2387=)
NM_004380.3(CREBBP):c.7182C>T (p.Ser2394=) rs934317603
NM_004380.3(CREBBP):c.7195C>T (p.His2399Tyr)
NM_004380.3(CREBBP):c.7203G>T (p.Gly2401=)
NM_004380.3(CREBBP):c.7209C>T (p.Pro2403=)
NM_004380.3(CREBBP):c.7245C>T (p.Pro2415=) rs1555470758
NM_004380.3(CREBBP):c.7257G>A (p.Ala2419=)
NM_004380.3(CREBBP):c.726C>G (p.Thr242=)
NM_004380.3(CREBBP):c.7292C>T (p.Thr2431Met)
NM_004380.3(CREBBP):c.732G>A (p.Thr244=)
NM_004380.3(CREBBP):c.753T>G (p.Thr251=) rs142403441
NM_004380.3(CREBBP):c.756T>C (p.Gly252=)
NM_004380.3(CREBBP):c.758A>G (p.His253Arg) rs142268920
NM_004380.3(CREBBP):c.761C>T (p.Ala254Val)
NM_004380.3(CREBBP):c.775G>T (p.Ala259Ser)
NM_004380.3(CREBBP):c.782C>T (p.Ala261Val)
NM_004380.3(CREBBP):c.799-18A>T
NM_004380.3(CREBBP):c.799-19del rs2141347625
NM_004380.3(CREBBP):c.810T>C (p.Thr270=)
NM_004380.3(CREBBP):c.85+11G>A
NM_004380.3(CREBBP):c.85+13_85+28del
NM_004380.3(CREBBP):c.85+14C>T
NM_004380.3(CREBBP):c.85+7_85+13del
NM_004380.3(CREBBP):c.858G>A (p.Gln286=)
NM_004380.3(CREBBP):c.86-20C>A
NM_004380.3(CREBBP):c.927C>G (p.Thr309=) rs575297081
NM_004380.3(CREBBP):c.934A>G (p.Thr312Ala)
NM_004380.3(CREBBP):c.941T>C (p.Ile314Thr)
NM_004380.3(CREBBP):c.942C>G (p.Ile314Met)
NM_004380.3(CREBBP):c.966G>A (p.Val322=)
NM_004380.3(CREBBP):c.975+9C>A
NM_004380.3(CREBBP):c.976-12G>T
NM_004380.3(CREBBP):c.976-20A>G
NM_004380.3(CREBBP):c.976-4T>G
NM_004380.3(CREBBP):c.976-6T>C
NM_004380.3(CREBBP):c.987A>G (p.Gln329=) rs778596455
NM_004380.3(CREBBP):c.993A>C (p.Ser331=)
NM_004380.3(CREBBP):c.998G>A (p.Gly333Glu) rs2053548814

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