ClinVar Miner

List of variants in gene GARS1 studied for Spinal muscular atrophy, infantile, James type

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002047.4(GARS1):c.124C>G (p.Pro42Ala) rs1049402 0.70073
NM_002047.4(GARS1):c.659-43C>A rs1558064 0.49314
NM_002047.4(GARS1):c.2095-6C>T rs2240401 0.48477
NM_002047.4(GARS1):c.1001T>A (p.Ile334Asn) rs1554338262
NM_002047.4(GARS1):c.1954G>C (p.Gly652Arg) rs1783251037
NM_002047.4(GARS1):c.1955G>C (p.Gly652Ala) rs747080824
NM_002047.4(GARS1):c.373G>A (p.Glu125Lys) rs797044855

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.