ClinVar Miner

List of variants in gene EP300, LOC126863158 studied for Menke-Hennekam syndrome

Included ClinVar conditions (6):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 4

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001429.4(EP300):c.2989A>G (p.Ile997Val)	rs20551	0.22427
NM_001429.4(EP300):c.2960C>T (p.Pro987Leu)	rs2145740050
NM_001429.4(EP300):c.3098C>T (p.Ser1033Leu)
NM_001429.4(EP300):c.3139_3140del (p.Lys1047fs)

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.