ClinVar Miner

List of variants reported as uncertain significance for Rubinstein-Taybi syndrome due to CREBBP mutations by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
Download table as spreadsheet
NM_001079846.1(CREBBP):c.1149G>A (p.Pro383=) rs61759495
NM_001079846.1(CREBBP):c.164A>G (p.Asn55Ser) rs587783466
NM_001079846.1(CREBBP):c.1841A>C (p.His614Pro) rs587783468
NM_001079846.1(CREBBP):c.2492T>C (p.Leu831Pro) rs587783472
NM_001079846.1(CREBBP):c.2565G>A (p.Ser855=) rs587783474
NM_001079846.1(CREBBP):c.2697G>A (p.Pro899=) rs146168040
NM_001079846.1(CREBBP):c.3875A>G (p.Gln1292Arg) rs587783487
NM_001079846.1(CREBBP):c.4780T>C (p.Phe1594Leu) rs587783501
NM_001079846.1(CREBBP):c.5605G>A (p.Ala1869Thr) rs199990883
NM_001079846.1(CREBBP):c.5686T>C (p.Ser1896Pro) rs587783504
NM_001079846.1(CREBBP):c.6335C>T (p.Pro2112Leu) rs587783512

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.