ClinVar Miner

List of variants in gene EP300 reported as uncertain significance for Rubinstein-Taybi syndrome 2

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP
NM_001429.4(EP300):c.1529-8T>C rs587783621
NM_001429.4(EP300):c.2019T>C (p.Pro673=) rs2230110
NM_001429.4(EP300):c.2998-12G>A rs115849119
NM_001429.4(EP300):c.3665C>A (p.Pro1222His) rs7285319
NM_001429.4(EP300):c.3750C>G (p.Cys1250Trp)
NM_001429.4(EP300):c.5061+10G>A rs78432056
NM_001429.4(EP300):c.586A>G (p.Ile196Val) rs148693910

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.