ClinVar Miner

List of variants in gene CREBBP studied for Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 280
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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.6609A>G (p.Gln2203=) rs62636220 0.01025
NM_004380.3(CREBBP):c.5988C>T (p.Ala1996=) rs181646656 0.00612
NM_004380.3(CREBBP):c.6849C>T (p.Ser2283=) rs148904096 0.00267
NM_004380.3(CREBBP):c.2973C>T (p.Asp991=) rs142528559 0.00233
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.1574-12C>T rs185243405 0.00116
NM_004380.3(CREBBP):c.4350C>T (p.Tyr1450=) rs144832179 0.00116
NM_004380.3(CREBBP):c.2678C>T (p.Ser893Leu) rs142047649 0.00102
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.4119C>T (p.Pro1373=) rs3025679 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.4251C>T (p.Tyr1417=) rs61731412 0.00024
NM_004380.3(CREBBP):c.4560+14A>G rs200934101 0.00021
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.833A>C (p.Gln278Pro) rs577305576 0.00015
NM_004380.3(CREBBP):c.5747T>C (p.Met1916Thr) rs559294915 0.00013
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.2854G>A (p.Val952Met) rs369930675 0.00009
NM_004380.3(CREBBP):c.3204C>T (p.Asn1068=) rs150189749 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.1633T>C (p.Leu545=) rs371285951 0.00007
NM_004380.3(CREBBP):c.2439G>A (p.Pro813=) rs763702839 0.00007
NM_004380.3(CREBBP):c.3370-17A>T rs767500889 0.00007
NM_004380.3(CREBBP):c.435C>T (p.Pro145=) rs201435679 0.00006
NM_004380.3(CREBBP):c.4956C>T (p.Pro1652=) rs139365408 0.00006
NM_004380.3(CREBBP):c.1514C>T (p.Pro505Leu) rs369550568 0.00005
NM_004380.3(CREBBP):c.6195C>T (p.Ser2065=) rs374150949 0.00005
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.3060+9C>T rs372291994 0.00004
NM_004380.3(CREBBP):c.5794A>G (p.Thr1932Ala) rs749249146 0.00004
NM_004380.3(CREBBP):c.5930T>A (p.Ile1977Asn) rs754429038 0.00004
NM_004380.3(CREBBP):c.6056G>T (p.Gly2019Val) rs771420935 0.00004
NM_004380.3(CREBBP):c.6678G>A (p.Ala2226=) rs750845399 0.00004
NM_004380.3(CREBBP):c.6795G>A (p.Ala2265=) rs748072121 0.00004
NM_004380.3(CREBBP):c.7236G>A (p.Leu2412=) rs745992971 0.00004
NM_004380.3(CREBBP):c.2141G>A (p.Arg714His) rs141098117 0.00003
NM_004380.3(CREBBP):c.2400G>A (p.Pro800=) rs756570921 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.5115C>T (p.Tyr1705=) rs200287696 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.7125C>T (p.His2375=) rs746116315 0.00003
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.6658G>A (p.Gly2220Ser) rs141184151 0.00002
NM_004380.3(CREBBP):c.7040C>T (p.Ala2347Val) rs182347573 0.00002
NM_004380.3(CREBBP):c.7116G>A (p.Ser2372=) rs758454751 0.00002
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.2064G>A (p.Pro688=) rs766050154 0.00001
NM_004380.3(CREBBP):c.3061-11T>C rs762277548 0.00001
NM_004380.3(CREBBP):c.3465C>T (p.Asp1155=) rs1447337021 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.4121G>C (p.Gly1374Ala) rs2052174869 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.4992C>T (p.Arg1664=) rs756979739 0.00001
NM_004380.3(CREBBP):c.5764C>G (p.Pro1922Ala) rs1035114591 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.5843C>T (p.Pro1948Leu) rs557611780 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.6450G>A (p.Pro2150=) rs371497730 0.00001
NM_004380.3(CREBBP):c.6550A>G (p.Ser2184Gly) rs398124149 0.00001
NM_004380.3(CREBBP):c.6684C>T (p.His2228=) rs138613594 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.7222A>G (p.Met2408Val) rs372005280 0.00001
NM_004380.3(CREBBP):c.960C>T (p.Thr320=) rs898885851 0.00001
NM_004380.3(CREBBP):c.1095T>C (p.His365=) rs565069106
NM_004380.3(CREBBP):c.1287T>A (p.Val429=)
NM_004380.3(CREBBP):c.1331-7G>T
NM_004380.3(CREBBP):c.1355G>A (p.Gly452Glu)
NM_004380.3(CREBBP):c.136C>G (p.Pro46Ala)
NM_004380.3(CREBBP):c.1417C>T (p.Pro473Ser)
NM_004380.3(CREBBP):c.1454A>G (p.Tyr485Cys)
NM_004380.3(CREBBP):c.1561C>G (p.Leu521Val)
NM_004380.3(CREBBP):c.1572G>C (p.Leu524=)
NM_004380.3(CREBBP):c.1645T>G (p.Ser549Ala)
NM_004380.3(CREBBP):c.1654C>T (p.Pro552Ser)
NM_004380.3(CREBBP):c.1756A>G (p.Thr586Ala)
NM_004380.3(CREBBP):c.175C>T (p.Leu59Phe)
NM_004380.3(CREBBP):c.1780G>A (p.Glu594Lys)
NM_004380.3(CREBBP):c.1823+18A>G
NM_004380.3(CREBBP):c.1823+7A>C
NM_004380.3(CREBBP):c.1893C>T (p.Ala631=)
NM_004380.3(CREBBP):c.1942-5T>C rs1482514446
NM_004380.3(CREBBP):c.199C>G (p.His67Asp) rs751125621
NM_004380.3(CREBBP):c.206A>G (p.Gln69Arg)
NM_004380.3(CREBBP):c.2075C>A (p.Pro692His)
NM_004380.3(CREBBP):c.2141G>T (p.Arg714Leu) rs141098117
NM_004380.3(CREBBP):c.2148A>G (p.Gln716=)
NM_004380.3(CREBBP):c.2159-15T>C
NM_004380.3(CREBBP):c.2181G>A (p.Met727Ile)
NM_004380.3(CREBBP):c.2225G>T (p.Arg742Leu)
NM_004380.3(CREBBP):c.2264G>A (p.Ser755Asn)
NM_004380.3(CREBBP):c.2269G>A (p.Gly757Ser)
NM_004380.3(CREBBP):c.2284-16G>A
NM_004380.3(CREBBP):c.2284-5C>T
NM_004380.3(CREBBP):c.2286G>A (p.Met762Ile)
NM_004380.3(CREBBP):c.2303G>A (p.Arg768Gln) rs754386072
NM_004380.3(CREBBP):c.2307G>A (p.Met769Ile)
NM_004380.3(CREBBP):c.2312A>G (p.Gln771Arg) rs147805823
NM_004380.3(CREBBP):c.2318C>T (p.Pro773Leu)
NM_004380.3(CREBBP):c.2347A>G (p.Met783Val)
NM_004380.3(CREBBP):c.235G>A (p.Gly79Ser)
NM_004380.3(CREBBP):c.2376G>T (p.Gln792His)
NM_004380.3(CREBBP):c.2417T>A (p.Met806Lys) rs1596895058
NM_004380.3(CREBBP):c.2420G>C (p.Ser807Thr) rs750178517
NM_004380.3(CREBBP):c.2426G>A (p.Gly809Asp)
NM_004380.3(CREBBP):c.2495C>A (p.Pro832His)
NM_004380.3(CREBBP):c.2537C>T (p.Pro846Leu)
NM_004380.3(CREBBP):c.2554C>G (p.Pro852Ala)
NM_004380.3(CREBBP):c.2561A>G (p.His854Arg)
NM_004380.3(CREBBP):c.2566A>G (p.Thr856Ala)
NM_004380.3(CREBBP):c.2594G>T (p.Gly865Val)
NM_004380.3(CREBBP):c.2601A>T (p.Pro867=)
NM_004380.3(CREBBP):c.2702C>T (p.Pro901Leu)
NM_004380.3(CREBBP):c.2788C>T (p.Pro930Ser)
NM_004380.3(CREBBP):c.2810C>G (p.Pro937Arg)
NM_004380.3(CREBBP):c.2810C>T (p.Pro937Leu)
NM_004380.3(CREBBP):c.2824C>T (p.Pro942Ser)
NM_004380.3(CREBBP):c.2879C>T (p.Pro960Leu)
NM_004380.3(CREBBP):c.288G>A (p.Gln96=)
NM_004380.3(CREBBP):c.2924C>G (p.Pro975Arg)
NM_004380.3(CREBBP):c.2993A>G (p.Lys998Arg)
NM_004380.3(CREBBP):c.3060+10G>T
NM_004380.3(CREBBP):c.3064A>T (p.Met1022Leu)
NM_004380.3(CREBBP):c.3064_3066del
NM_004380.3(CREBBP):c.3134C>T (p.Pro1045Leu)
NM_004380.3(CREBBP):c.3148G>C (p.Glu1050Gln)
NM_004380.3(CREBBP):c.3161A>G (p.Glu1054Gly)
NM_004380.3(CREBBP):c.3181G>A (p.Glu1061Lys)
NM_004380.3(CREBBP):c.318G>C (p.Gln106His)
NM_004380.3(CREBBP):c.320C>G (p.Pro107Arg) rs766844540
NM_004380.3(CREBBP):c.3214T>G (p.Ser1072Ala)
NM_004380.3(CREBBP):c.3229_3231del (p.Pro1077del)
NM_004380.3(CREBBP):c.3236A>G (p.Gln1079Arg)
NM_004380.3(CREBBP):c.3242G>A (p.Arg1081His)
NM_004380.3(CREBBP):c.3250A>T (p.Ile1084Phe)
NM_004380.3(CREBBP):c.3339G>A (p.Gln1113=)
NM_004380.3(CREBBP):c.3370-3A>G
NM_004380.3(CREBBP):c.3370-4del rs75459669
NM_004380.3(CREBBP):c.3370-5_3370-4del rs75459669
NM_004380.3(CREBBP):c.3442C>G (p.Gln1148Glu) rs2052626228
NM_004380.3(CREBBP):c.3609+5A>G
NM_004380.3(CREBBP):c.3659C>T (p.Thr1220Ile)
NM_004380.3(CREBBP):c.3779+1G>A rs587783483
NM_004380.3(CREBBP):c.3779C>A (p.Thr1260Lys)
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys) rs267606752
NM_004380.3(CREBBP):c.3836+5G>A
NM_004380.3(CREBBP):c.3862C>T (p.Arg1288Trp)
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.4103C>T (p.Thr1368Met)
NM_004380.3(CREBBP):c.4141G>A (p.Asp1381Asn) rs2052155279
NM_004380.3(CREBBP):c.422C>G (p.Ser141Cys)
NM_004380.3(CREBBP):c.430A>T (p.Thr144Ser)
NM_004380.3(CREBBP):c.4364T>C (p.Ile1455Thr)
NM_004380.3(CREBBP):c.4395-13G>A
NM_004380.3(CREBBP):c.449C>A (p.Ala150Glu)
NM_004380.3(CREBBP):c.4518G>C (p.Met1506Ile)
NM_004380.3(CREBBP):c.4540C>T (p.Arg1514Trp)
NM_004380.3(CREBBP):c.463G>A (p.Ala155Thr)
NM_004380.3(CREBBP):c.4672C>G (p.Gln1558Glu)
NM_004380.3(CREBBP):c.4744A>G (p.Ser1582Gly)
NM_004380.3(CREBBP):c.4749G>T (p.Lys1583Asn)
NM_004380.3(CREBBP):c.4795A>G (p.Ser1599Gly)
NM_004380.3(CREBBP):c.4807G>A (p.Ala1603Thr)
NM_004380.3(CREBBP):c.4835A>G (p.Asn1612Ser)
NM_004380.3(CREBBP):c.4837G>T (p.Val1613Leu)
NM_004380.3(CREBBP):c.4888G>A (p.Glu1630Lys)
NM_004380.3(CREBBP):c.4959C>T (p.Asp1653=)
NM_004380.3(CREBBP):c.4991G>A (p.Arg1664His) rs1596791996
NM_004380.3(CREBBP):c.503C>T (p.Thr168Met)
NM_004380.3(CREBBP):c.5048G>A (p.Arg1683His)
NM_004380.3(CREBBP):c.5060C>T (p.Ser1687Phe) rs2151316542
NM_004380.3(CREBBP):c.510G>C (p.Gln170His)
NM_004380.3(CREBBP):c.518C>T (p.Pro173Leu)
NM_004380.3(CREBBP):c.5210G>A (p.Ser1737Asn)
NM_004380.3(CREBBP):c.5241G>T (p.Leu1747=) rs932933039
NM_004380.3(CREBBP):c.5264G>A (p.Ser1755Asn)
NM_004380.3(CREBBP):c.5377C>T (p.Pro1793Ser)
NM_004380.3(CREBBP):c.5462A>G (p.Gln1821Arg) rs1448187215
NM_004380.3(CREBBP):c.5544C>G (p.His1848Gln)
NM_004380.3(CREBBP):c.559G>C (p.Gly187Arg)
NM_004380.3(CREBBP):c.5614A>G (p.Met1872Val) rs797045037
NM_004380.3(CREBBP):c.5676C>T (p.Thr1892=)
NM_004380.3(CREBBP):c.5685G>A (p.Gln1895=)
NM_004380.3(CREBBP):c.5708C>T (p.Pro1903Leu)
NM_004380.3(CREBBP):c.5717C>T (p.Pro1906Leu)
NM_004380.3(CREBBP):c.572G>C (p.Ser191Thr)
NM_004380.3(CREBBP):c.5792C>T (p.Thr1931Ile)
NM_004380.3(CREBBP):c.5797G>A (p.Val1933Met)
NM_004380.3(CREBBP):c.5820C>G (p.Ser1940Arg)
NM_004380.3(CREBBP):c.5821C>T (p.Gln1941Ter) rs587783505
NM_004380.3(CREBBP):c.5827C>G (p.Pro1943Ala)
NM_004380.3(CREBBP):c.5836C>T (p.Pro1946Ser)
NM_004380.3(CREBBP):c.5837C>A (p.Pro1946Gln) rs765600316
NM_004380.3(CREBBP):c.5844G>A (p.Pro1948=)
NM_004380.3(CREBBP):c.5849A>C (p.Gln1950Pro)
NM_004380.3(CREBBP):c.5910G>T (p.Gln1970His)
NM_004380.3(CREBBP):c.5925G>A (p.Val1975=)
NM_004380.3(CREBBP):c.5933ACA[1] (p.Asn1979del)
NM_004380.3(CREBBP):c.5961_5981delinsGCAT (p.Met1988fs) rs2151306905
NM_004380.3(CREBBP):c.5969_5977del (p.Thr1990_Gly1992del) rs777318563
NM_004380.3(CREBBP):c.5992G>T (p.Val1998Leu)
NM_004380.3(CREBBP):c.5997C>T (p.Ser1999=)
NM_004380.3(CREBBP):c.6029G>T (p.Gly2010Val)
NM_004380.3(CREBBP):c.6045C>G (p.Ser2015Arg)
NM_004380.3(CREBBP):c.6110G>A (p.Arg2037Lys)
NM_004380.3(CREBBP):c.6137C>T (p.Ala2046Val)
NM_004380.3(CREBBP):c.6145G>T (p.Ala2049Ser)
NM_004380.3(CREBBP):c.6195C>A (p.Ser2065Arg) rs374150949
NM_004380.3(CREBBP):c.6227C>T (p.Ser2076Leu)
NM_004380.3(CREBBP):c.6348_6383dup (p.Gly2132_Met2133insLeuGlnSerGlnProGlyMetGlnProGlnProGly)
NM_004380.3(CREBBP):c.6384_6401dup (p.Gln2128_Met2133dup) rs772003652
NM_004380.3(CREBBP):c.6435G>C (p.Met2145Ile)
NM_004380.3(CREBBP):c.6479C>T (p.Ala2160Val)
NM_004380.3(CREBBP):c.6519C>G (p.Ile2173Met)
NM_004380.3(CREBBP):c.6542A>G (p.Asn2181Ser)
NM_004380.3(CREBBP):c.6547G>T (p.Ala2183Ser)
NM_004380.3(CREBBP):c.6580C>T (p.Arg2194Trp)
NM_004380.3(CREBBP):c.6594GCA[3] (p.Gln2215_Gln2216del) rs746121736
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.6621_6644del (p.Gln2209_Gln2216del) rs778507028
NM_004380.3(CREBBP):c.6624A>G (p.Gln2208=) rs142545779
NM_004380.3(CREBBP):c.6636GCA[5] (p.Gln2216_Gly2217insGln)
NM_004380.3(CREBBP):c.6658G>C (p.Gly2220Arg)
NM_004380.3(CREBBP):c.6673A>G (p.Met2225Val)
NM_004380.3(CREBBP):c.6686G>A (p.Gly2229Asp)
NM_004380.3(CREBBP):c.6730A>G (p.Met2244Val)
NM_004380.3(CREBBP):c.6785G>A (p.Gly2262Asp)
NM_004380.3(CREBBP):c.6811C>G (p.Leu2271Val)
NM_004380.3(CREBBP):c.6819G>C (p.Gln2273His)
NM_004380.3(CREBBP):c.6829C>T (p.Pro2277Ser)
NM_004380.3(CREBBP):c.6834G>A (p.Gly2278=) rs372866305
NM_004380.3(CREBBP):c.6847A>G (p.Ser2283Gly)
NM_004380.3(CREBBP):c.6909_6910delinsTA (p.Gln2303_Gln2304delinsHisLys)
NM_004380.3(CREBBP):c.6937C>G (p.Pro2313Ala)
NM_004380.3(CREBBP):c.6980C>G (p.Ala2327Gly)
NM_004380.3(CREBBP):c.7018A>G (p.Ser2340Gly)
NM_004380.3(CREBBP):c.7082C>T (p.Ser2361Phe)
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.7139C>G (p.Thr2380Ser)
NM_004380.3(CREBBP):c.7172T>C (p.Met2391Thr)
NM_004380.3(CREBBP):c.7185A>G (p.Ile2395Met)
NM_004380.3(CREBBP):c.7195C>T (p.His2399Tyr)
NM_004380.3(CREBBP):c.7207C>G (p.Pro2403Ala)
NM_004380.3(CREBBP):c.7210G>A (p.Glu2404Lys) rs863223334
NM_004380.3(CREBBP):c.7243C>T (p.Pro2415Ser)
NM_004380.3(CREBBP):c.7301C>T (p.Thr2434Met)
NM_004380.3(CREBBP):c.753T>G (p.Thr251=) rs142403441
NM_004380.3(CREBBP):c.772A>G (p.Thr258Ala) rs1597053070
NM_004380.3(CREBBP):c.904_905del (p.Ser302fs)
NM_004380.3(CREBBP):c.908T>C (p.Met303Thr)
NM_004380.3(CREBBP):c.921G>T (p.Leu307Phe)
NM_004380.3(CREBBP):c.964G>A (p.Val322Met)

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