ClinVar Miner

List of variants in gene KIF1A reported as likely pathogenic by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP
NM_004321.7(KIF1A):c.1450G>A (p.Gly484Ser) rs879253991
NM_004321.7(KIF1A):c.254C>A (p.Ala85Asp) rs1553639041
NM_004321.7(KIF1A):c.3607C>T (p.Arg1203Ter) rs879254106
NM_004321.7(KIF1A):c.37C>A (p.Arg13Ser) rs1064794935
NM_004321.7(KIF1A):c.798+1G>A rs1064796565
NM_004321.7(KIF1A):c.803G>A (p.Gly268Glu) rs1057518226
NM_004321.7(KIF1A):c.815A>G (p.Asn272Ser) rs876661283
NM_004321.7(KIF1A):c.829A>C (p.Thr277Pro) rs879254017
NM_004321.7(KIF1A):c.925T>C (p.Ser309Pro) rs879253998
NM_004321.7(KIF1A):c.947G>A (p.Arg316Gln) rs749718096

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.