ClinVar Miner

List of variants in gene NF1 reported as uncertain significance for Inborn genetic diseases

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP
NM_000267.3(NF1):c.5243G>A (p.Arg1748Gln) rs1555533559
NM_001042492.2(NF1):c.1166A>G (p.His389Arg) rs149739570
NM_001042492.2(NF1):c.3254T>G (p.Leu1085Arg) rs1555614849
NM_001042492.2(NF1):c.3974G>T (p.Arg1325Met) rs863224447
NM_001042492.2(NF1):c.5549T>C (p.Val1850Ala) rs1555533637

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.