ClinVar Miner

List of variants studied for Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities by Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004539.4(NARS1):c.1564C>T (p.Arg522Ter) rs747737475 0.00002
NM_004539.4(NARS1):c.1600C>T (p.Arg534Ter) rs2051507892
NM_004539.4(NARS1):c.179A>C (p.Lys60Thr) rs1908005677
NM_004539.4(NARS1):c.713G>A (p.Arg238Gln) rs2122431077

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.