ClinVar Miner

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

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Total variants: 30
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HGVS dbSNP
NM_001079846.1(CREBBP):c.1216+1312C>T rs1302427305
NM_001079846.1(CREBBP):c.1555del (p.Ala519fs) rs398124139
NM_001079846.1(CREBBP):c.1957C>T (p.Gln653Ter) rs1555483689
NM_001079846.1(CREBBP):c.2188C>T (p.Arg730Ter) rs1057520652
NM_001079846.1(CREBBP):c.2545C>T (p.Gln849Ter) rs1057520589
NM_001079846.1(CREBBP):c.2571del (p.Gln859fs) rs794727124
NM_001079846.1(CREBBP):c.2727dup (p.Gln910fs) rs886041468
NM_001079846.1(CREBBP):c.3223C>T (p.Gln1075Ter) rs398124144
NM_001079846.1(CREBBP):c.3227del (p.Pro1076fs) rs1057520072
NM_001079846.1(CREBBP):c.3495+1G>A rs886041879
NM_001079846.1(CREBBP):c.3665+1G>A rs587783483
NM_001079846.1(CREBBP):c.3718G>A (p.Glu1240Lys) rs267606752
NM_001079846.1(CREBBP):c.3868+1G>A rs398124145
NM_001079846.1(CREBBP):c.3879del (p.Thr1294fs) rs794727391
NM_001079846.1(CREBBP):c.3930_3943del (p.Gln1311fs) rs1555473890
NM_001079846.1(CREBBP):c.4325A>G (p.Asp1442Gly) rs886041286
NM_001079846.1(CREBBP):c.4395C>G (p.Tyr1465Ter) rs1555473105
NM_001079846.1(CREBBP):c.5242C>T (p.Arg1748Cys) rs1555471394
NM_001079846.1(CREBBP):c.5486G>A (p.Arg1829Gln) rs1131691326
NM_001079846.1(CREBBP):c.5488C>T (p.Arg1830Trp) rs886039491
NM_001079846.1(CREBBP):c.5489G>A (p.Arg1830Gln) rs1567263168
NM_001079846.1(CREBBP):c.5500A>G (p.Met1834Val) rs797045037
NM_001079846.1(CREBBP):c.5553dup (p.Pro1852fs) rs1555471336
NM_001079846.1(CREBBP):c.5896C>T (p.Arg1966Ter) rs886039331
NM_001079846.1(CREBBP):c.6079_6085dup (p.Leu2029fs) rs1131691988
NM_001079846.1(CREBBP):c.6106del (p.Thr2035_Leu2036insTer) rs1555471086
NM_001079846.1(CREBBP):c.6127C>T (p.Gln2043Ter) rs886041518
NM_001079846.1(CREBBP):c.6130C>T (p.Gln2044Ter) rs1057518789
NM_001079846.1(CREBBP):c.886dup (p.Gln296fs) rs1567331357
NM_001079846.1(CREBBP):c.910del (p.Val304fs) rs398124150

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