ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP
NM_004380.2(CREBBP):c.1669delG (p.Ala557Profs) rs398124139
NM_004380.2(CREBBP):c.2685delC (p.Gln897Argfs) rs794727124
NM_004380.2(CREBBP):c.3337C>T (p.Gln1113Ter) rs398124144
NM_004380.2(CREBBP):c.3982+1G>A rs398124145
NM_004380.2(CREBBP):c.3993delC (p.Thr1332Glnfs) rs794727391
NM_004380.2(CREBBP):c.4509C>G (p.Tyr1503Ter) rs1555473105
NM_004380.2(CREBBP):c.886dup (p.Gln296Profs)
NM_004380.2(CREBBP):c.910delG (p.Val304Serfs) rs398124150

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.