ClinVar Miner

List of variants reported as likely benign for hereditary sensory and autonomic neuropathy type 5 by Genome-Nilou Lab

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002506.3(NGF):c.239G>A (p.Arg80Gln) rs11466111 0.01173
NM_002506.3(NGF):c.214G>A (p.Val72Met) rs11466110 0.00727
NM_002506.3(NGF):c.78C>T (p.Val26=) rs150188752 0.00177
NM_002506.3(NGF):c.284G>A (p.Arg95His) rs150136942 0.00106
NM_002506.3(NGF):c.393C>T (p.Gly131=) rs778162180 0.00006
NM_002506.3(NGF):c.173C>T (p.Ala58Val) rs201861727 0.00003
NM_002506.3(NGF):c.600T>C (p.Tyr200=) rs774626005 0.00001

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.