ClinVar Miner

List of variants in gene KIF5A reported by Athena Diagnostics Inc

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004984.4(KIF5A):c.2957C>T (p.Pro986Leu) rs113247976 0.01241
NM_004984.4(KIF5A):c.1293+9G>A rs201749114 0.00222
NM_004984.4(KIF5A):c.2272G>A (p.Glu758Lys) rs140281678 0.00074
NM_004984.4(KIF5A):c.1150G>C (p.Gly384Arg) rs143326964 0.00060
NM_004984.4(KIF5A):c.2040G>A (p.Val680=) rs117670788 0.00016
NM_004984.4(KIF5A):c.1264C>T (p.Arg422Cys) rs748402153 0.00012
NM_004984.4(KIF5A):c.217+5T>C rs1321172885 0.00002
NM_004984.4(KIF5A):c.2282C>G (p.Thr761Ser) rs1271325672 0.00002
NM_004984.4(KIF5A):c.2538+8T>G rs377005699 0.00002
NM_004984.4(KIF5A):c.2881G>A (p.Ala961Thr) rs746095110 0.00002
NM_004984.4(KIF5A):c.1294-7C>T rs200535153 0.00001
NM_004984.4(KIF5A):c.2004G>A (p.Leu668=) rs778038642 0.00001
NM_004984.4(KIF5A):c.2112G>A (p.Glu704=) rs918777253 0.00001
NM_004984.4(KIF5A):c.531G>A (p.Pro177=) rs771476833 0.00001
NM_004984.4(KIF5A):c.967C>T (p.Arg323Trp) rs1012819766 0.00001
NM_004984.4(KIF5A):c.1176G>A (p.Glu392=) rs75907338
NM_004984.4(KIF5A):c.1362+7G>A rs1349376862
NM_004984.4(KIF5A):c.1429A>G (p.Asn477Asp) rs1882274569
NM_004984.4(KIF5A):c.1480C>T (p.Leu494=)
NM_004984.4(KIF5A):c.2656G>T (p.Ala886Ser) rs1017745641
NM_004984.4(KIF5A):c.586A>G (p.Thr196Ala) rs1565697675
NM_004984.4(KIF5A):c.590-3C>T rs1882102799
NM_004984.4(KIF5A):c.610C>T (p.Arg204Trp) rs1555177629
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.