ClinVar Miner

List of variants in gene EP300 reported as uncertain significance by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP
NM_001429.4(EP300):c.1316A>G (p.Asn439Ser)
NM_001429.4(EP300):c.1540A>G (p.Met514Val) rs765266179
NM_001429.4(EP300):c.1627A>G (p.Met543Val)
NM_001429.4(EP300):c.1989C>T (p.Gly663=) rs1291428868
NM_001429.4(EP300):c.2348C>T (p.Ala783Val) rs755619355
NM_001429.4(EP300):c.307G>A (p.Val103Ile) rs1193355188
NM_001429.4(EP300):c.359G>A (p.Ser120Asn) rs1303897359
NM_001429.4(EP300):c.3617A>G (p.Asn1206Ser)
NM_001429.4(EP300):c.4331A>G (p.Asp1444Gly) rs1569117388
NM_001429.4(EP300):c.4505C>T (p.Pro1502Leu) rs1555911573
NM_001429.4(EP300):c.4529C>G (p.Pro1510Arg) rs1569118503
NM_001429.4(EP300):c.4994G>A (p.Arg1665His)
NM_001429.4(EP300):c.5422A>C (p.Asn1808His) rs1569120861
NM_001429.4(EP300):c.6526C>T (p.Pro2176Ser) rs779543207
NM_001429.4(EP300):c.7070A>G (p.Asn2357Ser)

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.