ClinVar Miner

List of variants in gene CREBBP reported as likely benign for Rubinstein-Taybi syndrome 1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
Download table as spreadsheet
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.712G>C (p.Val238Leu) rs146887252
NM_001079846.1(CREBBP):c.7131C>T (p.Pro2377=) rs1555470758
NM_004380.3(CREBBP):c.2383_2400dup (p.Pro795_Pro800dup)
NM_004380.3(CREBBP):c.5776C>G (p.Arg1926Gly)

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.