ClinVar Miner

List of variants in gene CREBBP reported as uncertain significance for Rubinstein-Taybi syndrome due to CREBBP mutations

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 387
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HGVS dbSNP gnomAD frequency
NM_004380.3(CREBBP):c.1149G>A (p.Pro383=) rs61759495 0.00177
NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr) rs199990883 0.00113
NM_004380.3(CREBBP):c.5800T>C (p.Ser1934Pro) rs587783504 0.00030
NM_004380.3(CREBBP):c.3611A>T (p.Tyr1204Phe) rs200346970 0.00014
NM_004380.3(CREBBP):c.5747T>C (p.Met1916Thr) rs559294915 0.00013
NM_004380.3(CREBBP):c.1369A>G (p.Ile457Val) rs369459749 0.00009
NM_004380.3(CREBBP):c.2854G>A (p.Val952Met) rs369930675 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.2112A>G (p.Pro704=) rs398124142 0.00004
NM_004380.3(CREBBP):c.2505G>T (p.Met835Ile) rs759041100 0.00004
NM_004380.3(CREBBP):c.2598G>T (p.Met866Ile) rs771016864 0.00004
NM_004380.3(CREBBP):c.5794A>G (p.Thr1932Ala) rs749249146 0.00004
NM_004380.3(CREBBP):c.6678G>A (p.Ala2226=) rs750845399 0.00004
NM_004380.3(CREBBP):c.2141G>A (p.Arg714His) rs141098117 0.00003
NM_004380.3(CREBBP):c.271G>A (p.Ala91Thr) rs200673670 0.00003
NM_004380.3(CREBBP):c.2860G>A (p.Ala954Thr) rs373284909 0.00003
NM_004380.3(CREBBP):c.3233C>T (p.Ser1078Leu) rs942848385 0.00003
NM_004380.3(CREBBP):c.4213G>A (p.Val1405Met) rs140133512 0.00003
NM_004380.3(CREBBP):c.5740G>A (p.Val1914Met) rs760771706 0.00003
NM_004380.3(CREBBP):c.6071C>T (p.Ala2024Val) rs745551441 0.00003
NM_004380.3(CREBBP):c.6596A>T (p.Gln2199Leu) rs765821935 0.00003
NM_004380.3(CREBBP):c.7125C>T (p.His2375=) rs746116315 0.00003
NM_004380.3(CREBBP):c.1824C>G (p.Leu608=) rs753242611 0.00002
NM_004380.3(CREBBP):c.2679G>A (p.Ser893=) rs587783474 0.00002
NM_004380.3(CREBBP):c.4419C>T (p.Ala1473=) rs370689343 0.00002
NM_004380.3(CREBBP):c.7040C>T (p.Ala2347Val) rs182347573 0.00002
NM_004380.3(CREBBP):c.7162G>A (p.Ala2388Thr) rs756011865 0.00002
NM_004380.3(CREBBP):c.105C>G (p.Asp35Glu) rs372495787 0.00001
NM_004380.3(CREBBP):c.1520A>G (p.Gln507Arg) rs766320521 0.00001
NM_004380.3(CREBBP):c.1585A>G (p.Met529Val) rs747187975 0.00001
NM_004380.3(CREBBP):c.2557C>A (p.Leu853Met) rs542970560 0.00001
NM_004380.3(CREBBP):c.2695C>G (p.Pro899Ala) rs1186080322 0.00001
NM_004380.3(CREBBP):c.3385G>A (p.Val1129Ile) rs774047746 0.00001
NM_004380.3(CREBBP):c.3485A>G (p.Asn1162Ser) rs148166625 0.00001
NM_004380.3(CREBBP):c.3641A>G (p.Tyr1214Cys) rs1272691121 0.00001
NM_004380.3(CREBBP):c.3893A>G (p.Tyr1298Cys) rs773159964 0.00001
NM_004380.3(CREBBP):c.4121G>C (p.Gly1374Ala) rs2052174869 0.00001
NM_004380.3(CREBBP):c.437C>T (p.Ala146Val) rs1295662710 0.00001
NM_004380.3(CREBBP):c.4709C>T (p.Ala1570Val) rs1186493453 0.00001
NM_004380.3(CREBBP):c.4890+6C>T rs1567265838 0.00001
NM_004380.3(CREBBP):c.5777G>A (p.Arg1926Gln) rs1370704436 0.00001
NM_004380.3(CREBBP):c.5795C>T (p.Thr1932Met) rs867074201 0.00001
NM_004380.3(CREBBP):c.5796G>A (p.Thr1932=) rs755609198 0.00001
NM_004380.3(CREBBP):c.5836C>G (p.Pro1946Ala) rs1321085895 0.00001
NM_004380.3(CREBBP):c.586A>G (p.Ser196Gly) rs794727274 0.00001
NM_004380.3(CREBBP):c.6126G>T (p.Met2042Ile) rs1052723403 0.00001
NM_004380.3(CREBBP):c.6449C>T (p.Pro2150Leu) rs587783512 0.00001
NM_004380.3(CREBBP):c.6550A>G (p.Ser2184Gly) rs398124149 0.00001
NM_004380.3(CREBBP):c.6746G>A (p.Arg2249His) rs794727551 0.00001
NM_004380.3(CREBBP):c.6881G>A (p.Arg2294Gln) rs1064793091 0.00001
NM_004380.3(CREBBP):c.6956A>T (p.His2319Leu) rs587778215 0.00001
NM_004380.3(CREBBP):c.7178G>C (p.Ser2393Thr) rs766962344 0.00001
NC_000016.9:g.(?_3860584)_(3860800_?)del
NM_004380.3(CREBBP):c.1043C>T (p.Pro348Leu)
NM_004380.3(CREBBP):c.1109G>C (p.Arg370Pro) rs1179677806
NM_004380.3(CREBBP):c.1133G>T (p.Arg378Leu)
NM_004380.3(CREBBP):c.1148C>T (p.Pro383Leu) rs2053545106
NM_004380.3(CREBBP):c.1157G>A (p.Arg386Gln)
NM_004380.3(CREBBP):c.1213C>G (p.Gln405Glu) rs2053544204
NM_004380.3(CREBBP):c.1216+4A>G
NM_004380.3(CREBBP):c.1406C>G (p.Ser469Cys)
NM_004380.3(CREBBP):c.1451C>T (p.Ala484Val)
NM_004380.3(CREBBP):c.1504C>T (p.Pro502Ser)
NM_004380.3(CREBBP):c.1525C>T (p.Pro509Ser)
NM_004380.3(CREBBP):c.1534C>A (p.Pro512Thr)
NM_004380.3(CREBBP):c.1556G>A (p.Arg519Lys)
NM_004380.3(CREBBP):c.1577A>G (p.Asn526Ser)
NM_004380.3(CREBBP):c.1582C>G (p.Pro528Ala)
NM_004380.3(CREBBP):c.1594C>A (p.Pro532Thr)
NM_004380.3(CREBBP):c.1636A>G (p.Ile546Val)
NM_004380.3(CREBBP):c.1655C>T (p.Pro552Leu)
NM_004380.3(CREBBP):c.165C>A (p.Asn55Lys)
NM_004380.3(CREBBP):c.1678C>A (p.Pro560Thr)
NM_004380.3(CREBBP):c.1679C>A (p.Pro560Gln)
NM_004380.3(CREBBP):c.172A>T (p.Asn58Tyr)
NM_004380.3(CREBBP):c.1776G>C (p.Trp592Cys)
NM_004380.3(CREBBP):c.1853C>G (p.Pro618Arg)
NM_004380.3(CREBBP):c.1925A>G (p.Glu642Gly)
NM_004380.3(CREBBP):c.1934A>G (p.Asn645Ser)
NM_004380.3(CREBBP):c.1941+4G>C
NM_004380.3(CREBBP):c.1941+8G>A rs761673254
NM_004380.3(CREBBP):c.1941G>A (p.Arg647=)
NM_004380.3(CREBBP):c.1955A>C (p.His652Pro) rs587783468
NM_004380.3(CREBBP):c.1984C>A (p.Gln662Lys)
NM_004380.3(CREBBP):c.2031C>T (p.Gly677=)
NM_004380.3(CREBBP):c.2077C>G (p.Pro693Ala)
NM_004380.3(CREBBP):c.2098C>T (p.Pro700Ser)
NM_004380.3(CREBBP):c.2113+3A>G
NM_004380.3(CREBBP):c.2119C>T (p.Pro707Ser)
NM_004380.3(CREBBP):c.2138A>G (p.Asn713Ser)
NM_004380.3(CREBBP):c.2141G>T (p.Arg714Leu) rs141098117
NM_004380.3(CREBBP):c.2167T>G (p.Ser723Ala)
NM_004380.3(CREBBP):c.2177C>A (p.Pro726His)
NM_004380.3(CREBBP):c.2179A>G (p.Met727Val)
NM_004380.3(CREBBP):c.2181G>T (p.Met727Ile)
NM_004380.3(CREBBP):c.2194G>A (p.Val732Ile)
NM_004380.3(CREBBP):c.2303G>A (p.Arg768Gln) rs754386072
NM_004380.3(CREBBP):c.2306T>A (p.Met769Lys)
NM_004380.3(CREBBP):c.2312A>G (p.Gln771Arg) rs147805823
NM_004380.3(CREBBP):c.2314C>A (p.Pro772Thr) rs1555482779
NM_004380.3(CREBBP):c.2323A>G (p.Met775Val) rs990281677
NM_004380.3(CREBBP):c.2339C>A (p.Thr780Asn)
NM_004380.3(CREBBP):c.2347A>G (p.Met783Val)
NM_004380.3(CREBBP):c.2347A>T (p.Met783Leu)
NM_004380.3(CREBBP):c.2348T>G (p.Met783Arg)
NM_004380.3(CREBBP):c.2349G>C (p.Met783Ile)
NM_004380.3(CREBBP):c.2355_2366del (p.Ala787_Gln790del) rs755265819
NM_004380.3(CREBBP):c.239C>G (p.Ser80Cys) rs1318683084
NM_004380.3(CREBBP):c.2417T>A (p.Met806Lys) rs1596895058
NM_004380.3(CREBBP):c.2417T>C (p.Met806Thr) rs1596895058
NM_004380.3(CREBBP):c.2417T>G (p.Met806Arg) rs1596895058
NM_004380.3(CREBBP):c.2420G>C (p.Ser807Thr) rs750178517
NM_004380.3(CREBBP):c.2463+4C>T
NM_004380.3(CREBBP):c.248A>C (p.Asn83Thr)
NM_004380.3(CREBBP):c.2505G>A (p.Met835Ile) rs759041100
NM_004380.3(CREBBP):c.2512C>A (p.Pro838Thr)
NM_004380.3(CREBBP):c.2528T>C (p.Leu843Pro)
NM_004380.3(CREBBP):c.2530C>T (p.Pro844Ser) rs2052990480
NM_004380.3(CREBBP):c.258A>G (p.Ile86Met) rs2054819160
NM_004380.3(CREBBP):c.2606T>C (p.Leu869Pro) rs587783472
NM_004380.3(CREBBP):c.2638C>T (p.Pro880Ser)
NM_004380.3(CREBBP):c.2701C>T (p.Pro901Ser)
NM_004380.3(CREBBP):c.2712C>G (p.Gly904=)
NM_004380.3(CREBBP):c.2716G>C (p.Val906Leu)
NM_004380.3(CREBBP):c.2726C>G (p.Ala909Gly)
NM_004380.3(CREBBP):c.2744C>T (p.Thr915Ile)
NM_004380.3(CREBBP):c.2750C>T (p.Thr917Ile)
NM_004380.3(CREBBP):c.2765C>A (p.Ala922Asp)
NM_004380.3(CREBBP):c.2806_2811del (p.Pro936_Pro937del) rs2141199443
NM_004380.3(CREBBP):c.2830T>C (p.Ser944Pro)
NM_004380.3(CREBBP):c.283G>A (p.Val95Met) rs756802946
NM_004380.3(CREBBP):c.2852C>T (p.Pro951Leu)
NM_004380.3(CREBBP):c.2881-13G>A rs751913060
NM_004380.3(CREBBP):c.2903T>C (p.Ile968Thr) rs147795744
NM_004380.3(CREBBP):c.2917C>A (p.Pro973Thr)
NM_004380.3(CREBBP):c.2924C>T (p.Pro975Leu)
NM_004380.3(CREBBP):c.2992A>G (p.Lys998Glu)
NM_004380.3(CREBBP):c.3044_3046del (p.Gly1015del)
NM_004380.3(CREBBP):c.3133C>G (p.Pro1045Ala)
NM_004380.3(CREBBP):c.3151A>G (p.Lys1051Glu)
NM_004380.3(CREBBP):c.3161A>G (p.Glu1054Gly)
NM_004380.3(CREBBP):c.3163G>T (p.Val1055Leu)
NM_004380.3(CREBBP):c.3175G>C (p.Val1059Leu)
NM_004380.3(CREBBP):c.3178_3183del (p.Lys1060_Glu1061del)
NM_004380.3(CREBBP):c.3185A>C (p.Glu1062Ala)
NM_004380.3(CREBBP):c.318G>C (p.Gln106His)
NM_004380.3(CREBBP):c.318G>T (p.Gln106His)
NM_004380.3(CREBBP):c.3190G>A (p.Glu1064Lys) rs886041006
NM_004380.3(CREBBP):c.3208A>C (p.Thr1070Pro)
NM_004380.3(CREBBP):c.320C>G (p.Pro107Arg) rs766844540
NM_004380.3(CREBBP):c.3212C>T (p.Ala1071Val)
NM_004380.3(CREBBP):c.3227C>T (p.Ser1076Phe) rs1476678901
NM_004380.3(CREBBP):c.3238C>G (p.Pro1080Ala)
NM_004380.3(CREBBP):c.323A>G (p.Asn108Ser)
NM_004380.3(CREBBP):c.3242G>A (p.Arg1081His)
NM_004380.3(CREBBP):c.3249A>T (p.Lys1083Asn) rs2141181124
NM_004380.3(CREBBP):c.3250+4G>A
NM_004380.3(CREBBP):c.3250A>C (p.Ile1084Leu)
NM_004380.3(CREBBP):c.3250A>T (p.Ile1084Phe)
NM_004380.3(CREBBP):c.326G>A (p.Ser109Asn)
NM_004380.3(CREBBP):c.3287C>T (p.Pro1096Leu)
NM_004380.3(CREBBP):c.32A>G (p.Asn11Ser)
NM_004380.3(CREBBP):c.336G>C (p.Met112Ile)
NM_004380.3(CREBBP):c.3410C>G (p.Thr1137Ser)
NM_004380.3(CREBBP):c.3465C>A (p.Asp1155Glu)
NM_004380.3(CREBBP):c.3473G>C (p.Trp1158Ser)
NM_004380.3(CREBBP):c.3500A>G (p.Tyr1167Cys) rs587783481
NM_004380.3(CREBBP):c.3506G>A (p.Arg1169His)
NM_004380.3(CREBBP):c.3571C>A (p.Pro1191Thr) rs2151383193
NM_004380.3(CREBBP):c.3629C>G (p.Thr1210Ser)
NM_004380.3(CREBBP):c.363C>A (p.Ser121Arg)
NM_004380.3(CREBBP):c.3667C>T (p.Arg1223Cys)
NM_004380.3(CREBBP):c.3673G>A (p.Ala1225Thr) rs2052609627
NM_004380.3(CREBBP):c.3698+5G>T rs1596852349
NM_004380.3(CREBBP):c.3698+6C>T
NM_004380.3(CREBBP):c.3699-11C>A
NM_004380.3(CREBBP):c.3706T>A (p.Phe1236Ile)
NM_004380.3(CREBBP):c.3719G>A (p.Cys1240Tyr) rs1596839714
NM_004380.3(CREBBP):c.3729G>C (p.Glu1243Asp)
NM_004380.3(CREBBP):c.3760G>A (p.Asp1254Asn)
NM_004380.3(CREBBP):c.3771G>T (p.Gln1257His)
NM_004380.3(CREBBP):c.3782C>A (p.Thr1261Lys)
NM_004380.3(CREBBP):c.381TTC[1] (p.Ser129del)
NM_004380.3(CREBBP):c.3836C>G (p.Pro1279Arg) rs749189606
NM_004380.3(CREBBP):c.3839T>A (p.Phe1280Tyr)
NM_004380.3(CREBBP):c.3839T>G (p.Phe1280Cys) rs2151355973
NM_004380.3(CREBBP):c.3841G>T (p.Val1281Phe)
NM_004380.3(CREBBP):c.3844G>A (p.Asp1282Asn)
NM_004380.3(CREBBP):c.3892T>C (p.Tyr1298His) rs2052315739
NM_004380.3(CREBBP):c.3907C>T (p.Pro1303Ser) rs2151355349
NM_004380.3(CREBBP):c.3914+17_3914+32del
NM_004380.3(CREBBP):c.3920T>C (p.Val1307Ala) rs2151354200
NM_004380.3(CREBBP):c.3934T>G (p.Leu1312Val)
NM_004380.3(CREBBP):c.3973A>C (p.Ser1325Arg)
NM_004380.3(CREBBP):c.3974G>T (p.Ser1325Ile) rs760292945
NM_004380.3(CREBBP):c.3989A>G (p.Gln1330Arg) rs587783487
NM_004380.3(CREBBP):c.4013T>G (p.Leu1338Trp) rs2151341032
NM_004380.3(CREBBP):c.4043G>A (p.Arg1348His)
NM_004380.3(CREBBP):c.4090A>G (p.Ser1364Gly)
NM_004380.3(CREBBP):c.413C>G (p.Ala138Gly)
NM_004380.3(CREBBP):c.4141G>A (p.Asp1381Asn) rs2052155279
NM_004380.3(CREBBP):c.4210G>A (p.Gly1404Ser)
NM_004380.3(CREBBP):c.4252G>A (p.Gly1418Ser)
NM_004380.3(CREBBP):c.4279A>G (p.Arg1427Gly) rs794727401
NM_004380.3(CREBBP):c.431C>T (p.Thr144Ile)
NM_004380.3(CREBBP):c.4321C>T (p.Arg1441Trp)
NM_004380.3(CREBBP):c.4364T>G (p.Ile1455Ser)
NM_004380.3(CREBBP):c.4394+3G>A
NM_004380.3(CREBBP):c.4394+3_4394+7del rs1596810185
NM_004380.3(CREBBP):c.4394+5G>C
NM_004380.3(CREBBP):c.4397A>T (p.Tyr1466Phe)
NM_004380.3(CREBBP):c.4409A>C (p.His1470Pro)
NM_004380.3(CREBBP):c.4421_4422delinsTC (p.Cys1474Phe) rs1555473126
NM_004380.3(CREBBP):c.4438GAT[1] (p.Asp1481del)
NM_004380.3(CREBBP):c.4465C>A (p.Pro1489Thr)
NM_004380.3(CREBBP):c.4465C>G (p.Pro1489Ala) rs1303444757
NM_004380.3(CREBBP):c.4490A>C (p.Lys1497Thr)
NM_004380.3(CREBBP):c.4540C>T (p.Arg1514Trp)
NM_004380.3(CREBBP):c.4559A>T (p.Lys1520Met) rs1596805575
NM_004380.3(CREBBP):c.4561-3C>A
NM_004380.3(CREBBP):c.4571A>G (p.Lys1524Arg)
NM_004380.3(CREBBP):c.4612C>T (p.Pro1538Ser)
NM_004380.3(CREBBP):c.4624G>T (p.Gly1542Cys)
NM_004380.3(CREBBP):c.4640A>G (p.Asn1547Ser)
NM_004380.3(CREBBP):c.4649A>C (p.Glu1550Ala)
NM_004380.3(CREBBP):c.4666C>G (p.Leu1556Val)
NM_004380.3(CREBBP):c.4674AGA[2] (p.Glu1562del)
NM_004380.3(CREBBP):c.4721C>G (p.Thr1574Ser)
NM_004380.3(CREBBP):c.4726G>A (p.Glu1576Lys)
NM_004380.3(CREBBP):c.4728+4C>G
NM_004380.3(CREBBP):c.475G>A (p.Val159Met)
NM_004380.3(CREBBP):c.4764G>C (p.Lys1588Asn)
NM_004380.3(CREBBP):c.4767C>G (p.Asn1589Lys)
NM_004380.3(CREBBP):c.4804C>A (p.Arg1602Ser) rs2151319330
NM_004380.3(CREBBP):c.4846G>A (p.Asp1616Asn)
NM_004380.3(CREBBP):c.4894T>C (p.Phe1632Leu) rs587783501
NM_004380.3(CREBBP):c.4894T>G (p.Phe1632Val)
NM_004380.3(CREBBP):c.490A>G (p.Ser164Gly)
NM_004380.3(CREBBP):c.4910T>C (p.Leu1637Pro)
NM_004380.3(CREBBP):c.4942C>T (p.Pro1648Ser)
NM_004380.3(CREBBP):c.4943C>A (p.Pro1648His)
NM_004380.3(CREBBP):c.4981A>C (p.Met1661Leu)
NM_004380.3(CREBBP):c.4996G>A (p.Ala1666Thr)
NM_004380.3(CREBBP):c.500C>G (p.Ala167Gly)
NM_004380.3(CREBBP):c.5011G>A (p.Ala1671Thr) rs2151316910
NM_004380.3(CREBBP):c.5017G>T (p.Asp1673Tyr)
NM_004380.3(CREBBP):c.5025C>A (p.His1675Gln)
NM_004380.3(CREBBP):c.5036CCT[1] (p.Ser1680del) rs587783502
NM_004380.3(CREBBP):c.5051C>A (p.Ser1684Tyr) rs1555471841
NM_004380.3(CREBBP):c.5105G>T (p.Arg1702Leu) rs1275659601
NM_004380.3(CREBBP):c.5140G>A (p.Val1714Met)
NM_004380.3(CREBBP):c.515G>T (p.Gly172Val)
NM_004380.3(CREBBP):c.5172+4G>A
NM_004380.3(CREBBP):c.5201A>C (p.Asn1734Thr)
NM_004380.3(CREBBP):c.5234G>C (p.Trp1745Ser)
NM_004380.3(CREBBP):c.5238G>T (p.Gly1746=)
NM_004380.3(CREBBP):c.5242G>T (p.Gly1748Cys)
NM_004380.3(CREBBP):c.5301_5302insAAGAACCCCCAA (p.Ser1767_Arg1768insLysAsnProGln) rs2151311865
NM_004380.3(CREBBP):c.5352G>T (p.Gln1784His)
NM_004380.3(CREBBP):c.5377C>T (p.Pro1793Ser)
NM_004380.3(CREBBP):c.5398C>T (p.Arg1800Trp)
NM_004380.3(CREBBP):c.5404G>A (p.Val1802Met)
NM_004380.3(CREBBP):c.5440G>A (p.Gly1814Arg)
NM_004380.3(CREBBP):c.5462A>G (p.Gln1821Arg) rs1448187215
NM_004380.3(CREBBP):c.5467A>T (p.Ile1823Phe)
NM_004380.3(CREBBP):c.5489C>G (p.Ala1830Gly)
NM_004380.3(CREBBP):c.5540A>G (p.Lys1847Arg)
NM_004380.3(CREBBP):c.5549T>C (p.Leu1850Pro)
NM_004380.3(CREBBP):c.5557C>G (p.Gln1853Glu)
NM_004380.3(CREBBP):c.5570_5590dup (p.Gln1863_Leu1864insHisArgLeuGlnGlnAlaGln)
NM_004380.3(CREBBP):c.5573G>C (p.Arg1858Pro) rs770325046
NM_004380.3(CREBBP):c.5611A>C (p.Thr1871Pro) rs2051850835
NM_004380.3(CREBBP):c.5627A>G (p.Asn1876Ser)
NM_004380.3(CREBBP):c.5629G>A (p.Val1877Met)
NM_004380.3(CREBBP):c.5653C>T (p.Pro1885Ser)
NM_004380.3(CREBBP):c.5695A>G (p.Thr1899Ala)
NM_004380.3(CREBBP):c.5791A>C (p.Thr1931Pro)
NM_004380.3(CREBBP):c.5796_5804del (p.Val1933_Thr1935del)
NM_004380.3(CREBBP):c.5804C>T (p.Thr1935Ile) rs2151308115
NM_004380.3(CREBBP):c.5828C>A (p.Pro1943Gln)
NM_004380.3(CREBBP):c.5837C>A (p.Pro1946Gln) rs765600316
NM_004380.3(CREBBP):c.5839C>A (p.Pro1947Thr)
NM_004380.3(CREBBP):c.5842C>A (p.Pro1948Thr) rs1231016252
NM_004380.3(CREBBP):c.5844_5846dup (p.Ala1949dup) rs2151307787
NM_004380.3(CREBBP):c.5873C>T (p.Ala1958Val) rs986406817
NM_004380.3(CREBBP):c.5891G>T (p.Arg1964Leu)
NM_004380.3(CREBBP):c.5908C>G (p.Gln1970Glu)
NM_004380.3(CREBBP):c.5921G>A (p.Arg1974Gln)
NM_004380.3(CREBBP):c.5953C>T (p.Arg1985Cys)
NM_004380.3(CREBBP):c.5962A>G (p.Met1988Val)
NM_004380.3(CREBBP):c.5969_5977del (p.Thr1990_Gly1992del) rs777318563
NM_004380.3(CREBBP):c.599A>G (p.Gln200Arg)
NM_004380.3(CREBBP):c.6007C>T (p.Pro2003Ser) rs1282498604
NM_004380.3(CREBBP):c.6028G>A (p.Gly2010Arg) rs751739281
NM_004380.3(CREBBP):c.6050C>T (p.Pro2017Leu)
NM_004380.3(CREBBP):c.6055G>A (p.Gly2019Arg)
NM_004380.3(CREBBP):c.6071C>G (p.Ala2024Gly)
NM_004380.3(CREBBP):c.6119T>C (p.Ile2040Thr)
NM_004380.3(CREBBP):c.6122C>G (p.Ser2041Cys)
NM_004380.3(CREBBP):c.6124A>T (p.Met2042Leu)
NM_004380.3(CREBBP):c.613C>A (p.Gln205Lys)
NM_004380.3(CREBBP):c.6164G>C (p.Ser2055Thr)
NM_004380.3(CREBBP):c.625A>G (p.Met209Val)
NM_004380.3(CREBBP):c.6301A>G (p.Ile2101Val)
NM_004380.3(CREBBP):c.6339_6356dup (p.Gly2120_Leu2121insMetGlnProGlnProGly)
NM_004380.3(CREBBP):c.6348_6383dup (p.Gly2132_Met2133insLeuGlnSerGlnProGlyMetGlnProGlnProGly)
NM_004380.3(CREBBP):c.6361_6396del (p.Leu2121_Gly2132del)
NM_004380.3(CREBBP):c.6376G>A (p.Gly2126Ser)
NM_004380.3(CREBBP):c.6376G>T (p.Gly2126Cys)
NM_004380.3(CREBBP):c.6384_6401del (p.Gln2128_Met2133del) rs772003652
NM_004380.3(CREBBP):c.6384_6401dup (p.Gln2128_Met2133dup) rs772003652
NM_004380.3(CREBBP):c.6390G>C (p.Gln2130His)
NM_004380.3(CREBBP):c.6398T>C (p.Met2133Thr)
NM_004380.3(CREBBP):c.6449C>A (p.Pro2150Gln)
NM_004380.3(CREBBP):c.6451C>T (p.Arg2151Trp)
NM_004380.3(CREBBP):c.6454C>T (p.Pro2152Ser) rs773348705
NM_004380.3(CREBBP):c.6458G>A (p.Gly2153Asp)
NM_004380.3(CREBBP):c.6517A>G (p.Ile2173Val)
NM_004380.3(CREBBP):c.652A>G (p.Arg218Gly)
NM_004380.3(CREBBP):c.6538C>T (p.Pro2180Ser)
NM_004380.3(CREBBP):c.6543C>A (p.Asn2181Lys)
NM_004380.3(CREBBP):c.6557A>T (p.Asn2186Ile) rs1358192617
NM_004380.3(CREBBP):c.6559C>T (p.Pro2187Ser) rs2151303211
NM_004380.3(CREBBP):c.6594GCA[2] (p.Gln2214_Gln2216del) rs746121736
NM_004380.3(CREBBP):c.6594GCA[3] (p.Gln2215_Gln2216del) rs746121736
NM_004380.3(CREBBP):c.6594GCA[6] (p.Gln2216_Gly2217insGln)
NM_004380.3(CREBBP):c.6603_6620del (p.Gln2211_Gln2216del) rs2151302749
NM_004380.3(CREBBP):c.6612GCA[4] (p.Gln2216dup) rs779647460
NM_004380.3(CREBBP):c.6621ACA[1] (p.Gln2216del)
NM_004380.3(CREBBP):c.6621_6644del (p.Gln2209_Gln2216del) rs778507028
NM_004380.3(CREBBP):c.6624_6635del (p.Gln2213_Gln2216del) rs763108828
NM_004380.3(CREBBP):c.6625C>G (p.Gln2209Glu)
NM_004380.3(CREBBP):c.6633_6644dup (p.Gln2216_Gly2217insGlnGlnGlnGln)
NM_004380.3(CREBBP):c.6636GCA[5] (p.Gln2216_Gly2217insGln)
NM_004380.3(CREBBP):c.6646C>A (p.Gln2216Lys)
NM_004380.3(CREBBP):c.6664G>A (p.Ala2222Thr)
NM_004380.3(CREBBP):c.6668G>T (p.Gly2223Val)
NM_004380.3(CREBBP):c.6673A>C (p.Met2225Leu)
NM_004380.3(CREBBP):c.6673A>G (p.Met2225Val)
NM_004380.3(CREBBP):c.6680G>A (p.Gly2227Glu)
NM_004380.3(CREBBP):c.668G>C (p.Gly223Ala) rs2054806972
NM_004380.3(CREBBP):c.6730A>C (p.Met2244Leu)
NM_004380.3(CREBBP):c.6734AGC[3] (p.Gln2248del)
NM_004380.3(CREBBP):c.6734AGC[5] (p.Gln2248dup) rs753283086
NM_004380.3(CREBBP):c.6764C>T (p.Pro2255Leu) rs1191357764
NM_004380.3(CREBBP):c.6789G>C (p.Gln2263His)
NM_004380.3(CREBBP):c.6820A>G (p.Met2274Val) rs1306100144
NM_004380.3(CREBBP):c.6839G>A (p.Gly2280Glu) rs781438241
NM_004380.3(CREBBP):c.6871C>G (p.Leu2291Val)
NM_004380.3(CREBBP):c.6909_6910delinsTA (p.Gln2303_Gln2304delinsHisLys)
NM_004380.3(CREBBP):c.6959T>C (p.Met2320Thr)
NM_004380.3(CREBBP):c.695A>G (p.Gln232Arg) rs2054805900
NM_004380.3(CREBBP):c.6983C>T (p.Ser2328Leu)
NM_004380.3(CREBBP):c.7023C>G (p.Asn2341Lys)
NM_004380.3(CREBBP):c.7028T>G (p.Val2343Gly)
NM_004380.3(CREBBP):c.7058_7078del (p.Arg2353_Pro2359del) rs766383937
NM_004380.3(CREBBP):c.7106C>T (p.Pro2369Leu)
NM_004380.3(CREBBP):c.7111C>A (p.Pro2371Thr)
NM_004380.3(CREBBP):c.7123C>T (p.His2375Tyr)
NM_004380.3(CREBBP):c.7136A>C (p.Gln2379Pro)
NM_004380.3(CREBBP):c.719C>T (p.Ala240Val)
NM_004380.3(CREBBP):c.7210G>A (p.Glu2404Lys) rs863223334
NM_004380.3(CREBBP):c.721G>A (p.Glu241Lys)
NM_004380.3(CREBBP):c.7243C>T (p.Pro2415Ser)
NM_004380.3(CREBBP):c.725C>A (p.Thr242Asn)
NM_004380.3(CREBBP):c.7266C>G (p.Ser2422Arg)
NM_004380.3(CREBBP):c.7290_7301dup (p.Thr2434_Leu2435insThrGlyAspThr)
NM_004380.3(CREBBP):c.7300A>G (p.Thr2434Ala)
NM_004380.3(CREBBP):c.7311G>T (p.Lys2437Asn) rs895608889
NM_004380.3(CREBBP):c.739T>C (p.Ser247Pro)
NM_004380.3(CREBBP):c.749T>C (p.Met250Thr)
NM_004380.3(CREBBP):c.760G>T (p.Ala254Ser)
NM_004380.3(CREBBP):c.772A>G (p.Thr258Ala) rs1597053070
NM_004380.3(CREBBP):c.778C>A (p.Gln260Lys)
NM_004380.3(CREBBP):c.796A>G (p.Lys266Glu)
NM_004380.3(CREBBP):c.799A>G (p.Met267Val)
NM_004380.3(CREBBP):c.799A>T (p.Met267Leu)
NM_004380.3(CREBBP):c.805A>G (p.Ile269Val)
NM_004380.3(CREBBP):c.874G>A (p.Gly292Arg)
NM_004380.3(CREBBP):c.875G>A (p.Gly292Glu)
NM_004380.3(CREBBP):c.878T>A (p.Val293Glu) rs1239213391
NM_004380.3(CREBBP):c.882C>A (p.Asn294Lys)
NM_004380.3(CREBBP):c.907A>G (p.Met303Val) rs1567331335
NM_004380.3(CREBBP):c.955G>A (p.Val319Ile)
NM_004380.3(CREBBP):c.959C>G (p.Thr320Ser)
NM_004380.3(CREBBP):c.975+3A>G

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