ClinVar Miner

List of variants in gene CREBBP reported as pathogenic by GeneDx

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Gene type:
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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_004380.3(CREBBP):c.5356C>T (p.Arg1786Cys) rs1555471394 0.00001
GRCh38/hg38 16p13.3(chr16:3750305-3769722)x3
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.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.2659C>T (p.Gln887Ter) rs1057520589
NM_004380.3(CREBBP):c.2841dup (p.Gln948fs) rs886041468
NM_004380.3(CREBBP):c.3307C>T (p.Arg1103Ter)
NM_004380.3(CREBBP):c.3517C>T (p.Arg1173Ter)
NM_004380.3(CREBBP):c.3609+1G>A rs886041879
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.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.4439A>G (p.Asp1480Gly) rs886041286
NM_004380.3(CREBBP):c.4650_4654del (p.Glu1551fs)
NM_004380.3(CREBBP):c.4894TTC[1] (p.Phe1633del) rs1555471931
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.5357G>A (p.Arg1786His) rs988251457
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.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

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