ClinVar Miner

List of variants in gene CREBBP reported as likely benign for Rubinstein-Taybi syndrome due to CREBBP mutations

Included ClinVar conditions (2):
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.1089T>C (p.His363=) rs969407052
NM_001079846.1(CREBBP):c.2079C>T (p.Asn693=) rs746813014
NM_001079846.1(CREBBP):c.2564C>T (p.Ser855Leu) rs142047649
NM_001079846.1(CREBBP):c.3871C>T (p.Leu1291=) rs149055008
NM_001079846.1(CREBBP):c.7131C>T (p.Pro2377=) rs1555470758
NM_001079846.1(CREBBP):c.879G>A (p.Val293=) rs144344016

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.