ClinVar Miner

List of variants in gene CREBBP reported as pathogenic by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 8
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NM_004380.3(CREBBP):c.1669del (p.Ala557fs) rs398124139
NM_004380.3(CREBBP):c.2685del (p.Gln897fs) rs794727124
NM_004380.3(CREBBP):c.3337C>T (p.Gln1113Ter) rs398124144
NM_004380.3(CREBBP):c.3982+1G>A rs398124145
NM_004380.3(CREBBP):c.3993del (p.Thr1332fs) rs794727391
NM_004380.3(CREBBP):c.4509C>G (p.Tyr1503Ter) rs1555473105
NM_004380.3(CREBBP):c.886dup (p.Gln296fs) rs1567331357
NM_004380.3(CREBBP):c.910del (p.Val304fs) rs398124150

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