ClinVar Miner

List of variants in gene CREBBP reported as pathogenic for not provided

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Gene type:
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Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_004380.3(CREBBP):c.5356C>T (p.Arg1786Cys) rs1555471394 0.00001
GRCh37/hg19 16p13.3(chr16:3776170-3807064)x1
GRCh37/hg19 16p13.3(chr16:3788869-3849208)x1
NM_004380.3(CREBBP):c.1237C>T (p.Arg413Ter) rs1302427305
NM_004380.3(CREBBP):c.1270C>T (p.Arg424Ter) rs587783464
NM_004380.3(CREBBP):c.1447C>T (p.Arg483Ter) rs1555484797
NM_004380.3(CREBBP):c.1669del (p.Ala557fs) rs398124139
NM_004380.3(CREBBP):c.2071C>T (p.Gln691Ter) rs1555483689
NM_004380.3(CREBBP):c.223C>T (p.Arg75Ter) rs2141496166
NM_004380.3(CREBBP):c.2302C>T (p.Arg768Ter) rs1057520652
NM_004380.3(CREBBP):c.2641C>T (p.Gln881Ter)
NM_004380.3(CREBBP):c.2659C>T (p.Gln887Ter) rs1057520589
NM_004380.3(CREBBP):c.2685del (p.Gln897fs) rs794727124
NM_004380.3(CREBBP):c.2841dup (p.Gln948fs) rs886041468
NM_004380.3(CREBBP):c.3307C>T (p.Arg1103Ter)
NM_004380.3(CREBBP):c.3337C>T (p.Gln1113Ter) rs398124144
NM_004380.3(CREBBP):c.3341del (p.Pro1114fs) rs1057520072
NM_004380.3(CREBBP):c.3517C>T (p.Arg1173Ter)
NM_004380.3(CREBBP):c.3609+1G>A rs886041879
NM_004380.3(CREBBP):c.3623dup (p.Gln1209fs) rs2052611239
NM_004380.3(CREBBP):c.3707_3719delinsCTGTGATCTTGCTGACAGGTATCA (p.Phe1236fs) rs1596839727
NM_004380.3(CREBBP):c.3779+1G>A rs587783483
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys) rs267606752
NM_004380.3(CREBBP):c.3982+1G>A rs398124145
NM_004380.3(CREBBP):c.3993del (p.Thr1332fs) rs794727391
NM_004380.3(CREBBP):c.4021C>T (p.Arg1341Ter)
NM_004380.3(CREBBP):c.4044_4057del (p.Gln1349fs) rs1555473890
NM_004380.3(CREBBP):c.4078C>T (p.Arg1360Ter) rs587783490
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.4439A>G (p.Asp1480Gly) rs886041286
NM_004380.3(CREBBP):c.4509C>G (p.Tyr1503Ter) rs1555473105
NM_004380.3(CREBBP):c.4606_4607del (p.Glu1536fs) rs2151327865
NM_004380.3(CREBBP):c.4621del (p.Glu1541fs) rs2151327825
NM_004380.3(CREBBP):c.4650_4654del (p.Glu1551fs)
NM_004380.3(CREBBP):c.4894TTC[1] (p.Phe1633del) rs1555471931
NM_004380.3(CREBBP):c.5036CCT[1] (p.Ser1680del) rs587783502
NM_004380.3(CREBBP):c.5158T>C (p.Cys1720Arg) rs2051906390
NM_004380.3(CREBBP):c.5170G>A (p.Glu1724Lys) rs1567265131
NM_004380.3(CREBBP):c.5336T>C (p.Leu1779Pro) rs1064796457
NM_004380.3(CREBBP):c.5345C>T (p.Ala1782Val) rs2051858361
NM_004380.3(CREBBP):c.5357G>A (p.Arg1786His) rs988251457
NM_004380.3(CREBBP):c.5439C>G (p.Asn1813Lys) rs372253007
NM_004380.3(CREBBP):c.5513G>A (p.Cys1838Tyr)
NM_004380.3(CREBBP):c.5599C>T (p.Arg1867Trp) rs398124148
NM_004380.3(CREBBP):c.5600G>A (p.Arg1867Gln) rs1131691326
NM_004380.3(CREBBP):c.5600G>T (p.Arg1867Leu) rs1131691326
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.5614A>G (p.Met1872Val) rs797045037
NM_004380.3(CREBBP):c.5667dup (p.Pro1890fs) rs1555471336
NM_004380.3(CREBBP):c.6010C>T (p.Arg2004Ter) rs886039331
NM_004380.3(CREBBP):c.6033dup (p.Val2012fs) rs2051832768
NM_004380.3(CREBBP):c.6133C>T (p.Gln2045Ter)
NM_004380.3(CREBBP):c.6193_6199dup (p.Leu2067fs) rs1131691988
NM_004380.3(CREBBP):c.6220del (p.Thr2073_Leu2074insTer) rs1555471086
NM_004380.3(CREBBP):c.6241C>T (p.Gln2081Ter) rs886041518
NM_004380.3(CREBBP):c.6244C>T (p.Gln2082Ter) rs1057518789
NM_004380.3(CREBBP):c.886dup (p.Gln296fs) rs1567331357
NM_004380.3(CREBBP):c.910del (p.Val304fs) rs398124150

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