ClinVar Miner

List of variants in gene KIF7 reported as pathogenic for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_198525.3(KIF7):c.2896_2897del (p.Ala966fs) rs752248403 0.00006
NM_198525.3(KIF7):c.61C>T (p.Arg21Ter) rs794727316 0.00003
NM_198525.3(KIF7):c.1106del (p.Ala369fs) rs886041531 0.00002
NM_198525.3(KIF7):c.1019dup (p.Asn341fs) rs1964065704 0.00001
NM_198525.3(KIF7):c.1149dup (p.Ile384fs) rs2142028862
NM_198525.3(KIF7):c.217del (p.Ala73fs) rs797044465
NM_198525.3(KIF7):c.2497C>T (p.Gln833Ter)
NM_198525.3(KIF7):c.2509C>T (p.Gln837Ter) rs1131691958
NM_198525.3(KIF7):c.2560_2570del (p.Ala854fs) rs762662896
NM_198525.3(KIF7):c.3001C>T (p.Gln1001Ter) rs387907045
NM_198525.3(KIF7):c.3087del (p.Arg1029fs)
NM_198525.3(KIF7):c.3093del (p.Ser1032fs)
NM_198525.3(KIF7):c.3235C>T (p.Gln1079Ter) rs1963646325
NM_198525.3(KIF7):c.3281C>G (p.Ser1094Ter) rs1555423165

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.