ClinVar Miner

List of variants in gene KIF5A reported as pathogenic for Spastic paraplegia

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004984.4(KIF5A):c.1762C>T (p.Arg588Ter) rs1555178348 0.00001
NM_004984.4(KIF5A):c.3020+1G>A rs1555179091 0.00001
NM_004984.4(KIF5A):c.1272_1273del (p.Leu424_Tyr425insTer)
NM_004984.4(KIF5A):c.1342C>T (p.Gln448Ter)
NM_004984.4(KIF5A):c.1901_1905delCTCAG (p.Ser634_Gln635insTer)
NM_004984.4(KIF5A):c.2030_2031del (p.Val677fs)
NM_004984.4(KIF5A):c.2068C>T (p.Gln690Ter)
NM_004984.4(KIF5A):c.2314C>T (p.Arg772Ter) rs1555178616
NM_004984.4(KIF5A):c.2590C>T (p.Arg864Ter) rs1882578572
NM_004984.4(KIF5A):c.2608G>T (p.Glu870Ter) rs1594925773
NM_004984.4(KIF5A):c.2913_2914insA (p.Ala972fs) rs1565705251
NM_004984.4(KIF5A):c.2993-3C>T rs1402429085
NM_004984.4(KIF5A):c.3020+1G>C rs1555179091
NM_004984.4(KIF5A):c.43C>T (p.Arg15Ter) rs2140150119
NM_004984.4(KIF5A):c.484C>T (p.Arg162Trp) rs748551786
NM_004984.4(KIF5A):c.500del (p.Lys167fs)
NM_004984.4(KIF5A):c.552_555del (p.Ile184fs)
NM_004984.4(KIF5A):c.610C>T (p.Arg204Trp) rs1555177629
NM_004984.4(KIF5A):c.611G>A (p.Arg204Gln) rs387907287
NM_004984.4(KIF5A):c.745C>G (p.Leu249Val)
NM_004984.4(KIF5A):c.751G>A (p.Glu251Lys) rs387907285
NM_004984.4(KIF5A):c.827A>G (p.Tyr276Cys) rs121434443
NM_004984.4(KIF5A):c.838C>T (p.Arg280Cys) rs121434442
NM_004984.4(KIF5A):c.839G>A (p.Arg280His) rs387907288

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.