ClinVar Miner

List of variants in gene KIF1A reported as pathogenic for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
Download table as spreadsheet
NM_004321.7(KIF1A):c.1040A>G (p.Tyr347Cys) rs879254004
NM_004321.7(KIF1A):c.222_223insGAC (p.Arg75_Asp76insAsp) rs1064796046
NM_004321.7(KIF1A):c.296C>T (p.Thr99Met) rs387906799
NM_004321.7(KIF1A):c.304G>A (p.Gly102Ser) rs1064795534
NM_004321.7(KIF1A):c.308A>C (p.Lys103Thr) rs1553639011
NM_004321.7(KIF1A):c.37C>T (p.Arg13Cys) rs1064794935
NM_004321.7(KIF1A):c.38G>A (p.Arg13His) rs797045050
NM_004321.7(KIF1A):c.452G>A (p.Cys151Tyr) rs1553638655
NM_004321.7(KIF1A):c.506G>A (p.Arg169Lys) rs876661168
NM_004321.7(KIF1A):c.512A>C (p.His171Pro) rs876661180
NM_004321.7(KIF1A):c.595G>A (p.Gly199Arg) rs1553638614
NM_004321.7(KIF1A):c.650C>G (p.Ser217Cys) rs876661202
NM_004321.7(KIF1A):c.757G>A (p.Glu253Lys) rs672601369
NM_004321.7(KIF1A):c.760C>T (p.Arg254Trp) rs879253888
NM_004321.7(KIF1A):c.761G>A (p.Arg254Gln) rs886041692
NM_004321.7(KIF1A):c.761G>C (p.Arg254Pro) rs886041692
NM_004321.7(KIF1A):c.821C>T (p.Ser274Leu) rs797045655
NM_004321.7(KIF1A):c.914C>T (p.Pro305Leu) rs1131690804
NM_004321.7(KIF1A):c.920G>A (p.Arg307Gln) rs1064793161
NM_004321.7(KIF1A):c.946C>T (p.Arg316Trp) rs672601370

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.