ClinVar Miner

List of variants in gene NAXE reported as benign for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_144772.3(NAXE):c.717A>C (p.Ile239=) rs6427322 0.93471
NM_144772.3(NAXE):c.664+28G>A rs6427321 0.93468
NM_144772.3(NAXE):c.804G>A (p.Glu268=) rs6668178 0.93461
NM_144772.3(NAXE):c.843C>T (p.Thr281=) rs942963 0.93461
NM_144772.3(NAXE):c.*22T>C rs1270 0.93458
NM_144772.3(NAXE):c.291+7G>A rs1925949 0.93449
NM_144772.3(NAXE):c.55G>C (p.Val19Leu) rs7516274 0.93444
NM_144772.3(NAXE):c.292-14G>A rs942959

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.