ClinVar Miner

List of variants in gene KIF1A studied for Spastic Paraplegia, Recessive

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001244008.2(KIF1A):c.3668C>T (p.Thr1223Met) rs374873057 0.00021
NM_001244008.2(KIF1A):c.75G>C (p.Lys25Asn) rs768320178 0.00001
NM_001244008.2(KIF1A):c.*1972del rs886055831
NM_001244008.2(KIF1A):c.*249dup rs886055835
NM_001244008.2(KIF1A):c.5064G>A (p.Pro1688=) rs527977882

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.