ClinVar Miner

List of variants in gene KARS1 reported as uncertain significance for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
Download table as spreadsheet
NM_001130089.1(KARS1):c.871T>G (p.Phe291Val) rs772410450
NM_005548.2(KARS1):c.1493C>T (p.Ala498Val) rs1415687857
NM_005548.3(KARS1):c.1178G>A (p.Arg393Gln) rs149772470
NM_005548.3(KARS1):c.1485A>G (p.Ile495Met) rs144274136
NM_005548.3(KARS1):c.797T>C (p.Ile266Thr)

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.