ClinVar Miner

List of variants in gene combination BEST1, FTH1 reported as benign for MRCS syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
Download table as spreadsheet
NM_002032.3(FTH1):c.*222C>T rs17156609
NM_002032.3(FTH1):c.*319G>A rs75281081
NM_004183.4(BEST1):c.1023C>T (p.Pro341=) rs1801390
NM_004183.4(BEST1):c.1410G>A (p.Thr470=) rs149698
NM_004183.4(BEST1):c.1557C>T (p.Ser519=) rs1800008
NM_004183.4(BEST1):c.1608T>C (p.Thr536=) rs1800009

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.