ClinVar Miner

List of variants in gene KIF5C reported as uncertain significance for Complex cortical dysplasia with other brain malformations 2

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004522.3(KIF5C):c.2675G>A (p.Arg892Gln) rs777411017 0.00013
NM_004522.3(KIF5C):c.2618C>T (p.Ala873Val) rs377483994 0.00003
NM_004522.3(KIF5C):c.1358A>G (p.Asp453Gly) rs752398746 0.00002
NM_004522.3(KIF5C):c.1700C>T (p.Thr567Ile) rs1297108227 0.00001
NM_004522.3(KIF5C):c.1187C>A (p.Thr396Asn) rs761630242
NM_004522.3(KIF5C):c.1190C>G (p.Pro397Arg) rs1574802637
NM_004522.3(KIF5C):c.1454A>C (p.Lys485Thr) rs2105159248
NM_004522.3(KIF5C):c.1716+9G>A rs1681300053
NM_004522.3(KIF5C):c.1771A>G (p.Ile591Val) rs573212266
NM_004522.3(KIF5C):c.1864A>G (p.Ser622Gly) rs1574818948
NM_004522.3(KIF5C):c.1899C>G (p.Ile633Met)
NM_004522.3(KIF5C):c.2230C>G (p.Leu744Val) rs1681814884
NM_004522.3(KIF5C):c.228A>C (p.Glu76Asp)
NM_004522.3(KIF5C):c.2291A>G (p.Glu764Gly)
NM_004522.3(KIF5C):c.2640G>C (p.Glu880Asp) rs376124388
NM_004522.3(KIF5C):c.2672T>C (p.Met891Thr) rs1247905100
NM_004522.3(KIF5C):c.2722G>A (p.Val908Met)
NM_004522.3(KIF5C):c.571C>T (p.Arg191Ter) rs758621329
NM_004522.3(KIF5C):c.610A>G (p.Arg204Gly) rs2468223003
NM_004522.3(KIF5C):c.952C>A (p.Leu318Met) rs2105113901

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.