ClinVar Miner

List of variants in gene KIF5A reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 62
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004984.4(KIF5A):c.152G>A (p.Arg51His) rs773336059 0.00009
NM_004984.4(KIF5A):c.1283T>G (p.Leu428Arg) rs370132723 0.00004
NM_004984.4(KIF5A):c.2803C>T (p.Pro935Ser) rs764612223 0.00004
NM_004984.4(KIF5A):c.425A>G (p.Lys142Arg) rs758987045 0.00003
NM_004984.4(KIF5A):c.1870C>T (p.Arg624Trp) rs748248329 0.00002
NM_004984.4(KIF5A):c.2006C>A (p.Ala669Asp) rs753975521 0.00002
NM_004984.4(KIF5A):c.2263G>A (p.Glu755Lys) rs387907286 0.00002
NM_004984.4(KIF5A):c.1762C>T (p.Arg588Ter) rs1555178348 0.00001
NM_004984.4(KIF5A):c.1771A>G (p.Ile591Val) rs761362390 0.00001
NM_004984.4(KIF5A):c.1811G>A (p.Arg604Gln) rs931757596 0.00001
NM_004984.4(KIF5A):c.1842G>C (p.Glu614Asp) rs757985743 0.00001
NM_004984.4(KIF5A):c.1849C>T (p.Arg617Cys) rs202045039 0.00001
NM_004984.4(KIF5A):c.1867G>A (p.Gly623Arg) rs1882386176 0.00001
NM_004984.4(KIF5A):c.2126C>T (p.Ala709Val) rs368671947 0.00001
NM_004984.4(KIF5A):c.2183T>C (p.Ile728Thr) rs757751684 0.00001
NM_004984.4(KIF5A):c.2188G>A (p.Glu730Lys) rs370904481 0.00001
NM_004984.4(KIF5A):c.236A>G (p.Asn79Ser) rs1299838179 0.00001
NM_004984.4(KIF5A):c.2452G>A (p.Glu818Lys) rs766050696 0.00001
NM_004984.4(KIF5A):c.2546G>A (p.Arg849His) rs765503816 0.00001
NM_004984.4(KIF5A):c.2816G>A (p.Arg939Gln) rs1188692048 0.00001
NM_004984.4(KIF5A):c.32A>C (p.Lys11Thr) rs748864821 0.00001
NM_004984.4(KIF5A):c.472G>A (p.Glu158Lys) rs1469562271 0.00001
NM_004984.4(KIF5A):c.526A>G (p.Ser176Gly) rs1392363068 0.00001
NM_004984.4(KIF5A):c.571C>T (p.Arg191Cys) rs769315791 0.00001
NM_004984.4(KIF5A):c.1153G>A (p.Glu385Lys) rs753854351
NM_004984.4(KIF5A):c.1156G>A (p.Glu386Lys) rs1052752751
NM_004984.4(KIF5A):c.1156G>C (p.Glu386Gln) rs1052752751
NM_004984.4(KIF5A):c.126T>G (p.Ile42Met) rs149569914
NM_004984.4(KIF5A):c.1293+5G>A rs2540501800
NM_004984.4(KIF5A):c.1309C>G (p.Gln437Glu)
NM_004984.4(KIF5A):c.1341G>T (p.Gln447His) rs2540503037
NM_004984.4(KIF5A):c.1352A>C (p.Asp451Ala) rs2140164755
NM_004984.4(KIF5A):c.1444G>C (p.Asp482His)
NM_004984.4(KIF5A):c.1537C>G (p.Gln513Glu) rs2540504230
NM_004984.4(KIF5A):c.1793T>C (p.Val598Ala) rs2540507796
NM_004984.4(KIF5A):c.1816C>T (p.Arg606Trp) rs1348214633
NM_004984.4(KIF5A):c.1880C>T (p.Ser627Leu)
NM_004984.4(KIF5A):c.2091G>C (p.Lys697Asn)
NM_004984.4(KIF5A):c.2162T>G (p.Ile721Ser) rs879254299
NM_004984.4(KIF5A):c.2174A>C (p.Gln725Pro) rs879254315
NM_004984.4(KIF5A):c.2198A>G (p.Asp733Gly)
NM_004984.4(KIF5A):c.2468T>A (p.Ile823Asn)
NM_004984.4(KIF5A):c.2656G>A (p.Ala886Thr)
NM_004984.4(KIF5A):c.2659A>T (p.Met887Leu) rs1184691547
NM_004984.4(KIF5A):c.2668A>G (p.Lys890Glu)
NM_004984.4(KIF5A):c.269C>T (p.Ser90Leu) rs1060502524
NM_004984.4(KIF5A):c.2732A>C (p.Lys911Thr) rs199953180
NM_004984.4(KIF5A):c.2923T>G (p.Cys975Gly) rs2540516252
NM_004984.4(KIF5A):c.2960T>C (p.Leu987Ser) rs2540516366
NM_004984.4(KIF5A):c.3070C>T (p.Pro1024Ser) rs1441630174
NM_004984.4(KIF5A):c.481A>C (p.Asn161His)
NM_004984.4(KIF5A):c.49C>T (p.Arg17Trp) rs2140150123
NM_004984.4(KIF5A):c.502-1G>C rs2140161193
NM_004984.4(KIF5A):c.515G>A (p.Arg172His) rs1882088063
NM_004984.4(KIF5A):c.551T>C (p.Ile184Thr) rs1882089233
NM_004984.4(KIF5A):c.558A>C (p.Glu186Asp)
NM_004984.4(KIF5A):c.587C>T (p.Thr196Ile) rs2140161296
NM_004984.4(KIF5A):c.598G>A (p.Glu200Lys) rs879254292
NM_004984.4(KIF5A):c.65C>T (p.Ala22Val) rs745558435
NM_004984.4(KIF5A):c.76C>T (p.Arg26Trp) rs2540481412
NM_004984.4(KIF5A):c.893C>T (p.Thr298Met) rs1303126235
NM_004984.4(KIF5A):c.959T>G (p.Phe320Cys) rs2140162988

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.