List of variants studied for Rubinstein-Taybi syndrome due to EP300 haploinsufficiency; Colorectal cancer

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001429.4(EP300):c.2367T>C (p.Ala789=)	rs759989339	0.00004
NM_001429.4(EP300):c.1887C>T (p.Tyr629=)	rs144594889	0.00002
NM_001429.4(EP300):c.2513G>A (p.Arg838His)	rs774840930	0.00001
NC_000022.11:g.(?_41131368)_(41140277_?)del
NC_000022.11:g.(?_41151813)_(41152370_?)del
NC_000022.11:g.(?_41154975)_(41164150_?)del
NM_001429.4(EP300):c.1878+1G>A	rs2058974109
NM_001429.4(EP300):c.3806+3A>G	rs1601629363

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.