List of variants in gene EP300 reported as uncertain significance by Baylor Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001429.4(EP300):c.1448A>T (p.Gln483Leu)	rs2058919614
NM_001429.4(EP300):c.3750C>G (p.Cys1250Trp)	rs747187417
NM_001429.4(EP300):c.5839A>G (p.Ile1947Val)	rs977251718
NM_001429.4(EP300):c.5840_5848del (p.Ile1947_Gln1949del)	rs1171171784
NM_001429.4(EP300):c.6350C>T (p.Thr2117Ile)	rs2059213237
NM_001429.4(EP300):c.6786G>C (p.Gln2262His)	rs2059217082
NM_001429.4(EP300):c.6815C>T (p.Pro2272Leu)	rs1386526100

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.