ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
Download table as spreadsheet
NM_002032.3(FTH1):c.*389A>G rs1801327
NM_002032.3(FTH1):c.*396A>G rs565138844
NM_002032.3(FTH1):c.161A>G (p.Lys54Arg) rs186448909
NM_002032.3(FTH1):c.387+12A>G rs201120647
NM_004183.4(BEST1):c.*133T>C rs1801621
NM_004183.4(BEST1):c.*24C>T rs142482048
NM_004183.4(BEST1):c.1064G>A (p.Arg355His) rs368356148
NM_004183.4(BEST1):c.1070C>T (p.Ala357Val) rs17854138
NM_004183.4(BEST1):c.1143C>T (p.Asp381=) rs112199774
NM_004183.4(BEST1):c.1474G>A (p.Val492Ile) rs111326315
NM_004183.4(BEST1):c.1519T>C (p.Ser507Pro) rs141071579
NM_004183.4(BEST1):c.1669G>A (p.Glu557Lys) rs147192139
NM_004183.4(BEST1):c.1699C>T (p.Leu567Phe) rs148060787

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.