ClinVar Miner

List of variants in gene CREBBP reported as pathogenic for Inborn genetic diseases

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP
NM_001079846.1(CREBBP):c.3314del (p.Asp1105fs) rs1555478331
NM_001079846.1(CREBBP):c.3841C>T (p.Arg1281Ter) rs1555475250
NM_001079846.1(CREBBP):c.4234T>C (p.Tyr1412His) rs1555473499
NM_001079846.1(CREBBP):c.4295A>G (p.His1432Arg) rs797044860
NM_001079846.1(CREBBP):c.5015G>A (p.Cys1672Tyr) rs1555471813
NM_001079846.1(CREBBP):c.90del (p.Phe30fs) rs1555496732

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.