ClinVar Miner

List of variants reported as likely benign for Fraser syndrome 3 by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001366722.1(GRIP1):c.2606G>A (p.Arg869Gln) rs145115262 0.00595
NM_001366722.1(GRIP1):c.*1314G>A rs144894732 0.00409
NM_001366722.1(GRIP1):c.2283G>A (p.Ser761=) rs200863167 0.00168
NM_001366722.1(GRIP1):c.2381T>G (p.Met794Arg) rs144494437 0.00155
NM_001366722.1(GRIP1):c.1645A>G (p.Ile549Val) rs201867922 0.00148
NM_001366722.1(GRIP1):c.1199-7C>G rs200313638 0.00029
NM_001366722.1(GRIP1):c.*234G>A rs541596282 0.00024
NM_001366722.1(GRIP1):c.1687+12T>C rs151041073 0.00023
NM_001366722.1(GRIP1):c.1688-3T>C rs185129168 0.00021
NM_001366722.1(GRIP1):c.1389G>A (p.Gly463=) rs200499586 0.00002
NM_001366722.1(GRIP1):c.*499A>G rs572566894 0.00001
NM_001366722.1(GRIP1):c.1787C>G (p.Pro596Arg) rs200955760
NM_001366722.1(GRIP1):c.418+14C>A rs79994510

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.