ClinVar Miner

List of variants in gene F11 reported as pathogenic by NIHR Bioresource Rare Diseases, University of Cambridge

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP
NM_000128.3(F11):c.1288G>A (p.Ala430Thr) rs753909969
NM_000128.3(F11):c.1325del (p.Leu442fs) rs757530565
NM_000128.3(F11):c.1432G>A (p.Gly478Arg) rs542967227
NM_000128.3(F11):c.1556G>A (p.Trp519Ter) rs201007090
NM_000128.3(F11):c.1782C>A (p.Ser594Arg) rs28934609
NM_000128.3(F11):c.365G>A (p.Gly122Asp) rs369650561
NM_000128.3(F11):c.400C>T (p.Gln134Ter) rs756908183
NM_000128.3(F11):c.403G>T (p.Glu135Ter) rs121965063
NM_000128.3(F11):c.408C>A (p.Cys136Ter) rs143648758
NM_000128.3(F11):c.755+2T>C rs1220869989
NM_000128.3(F11):c.802C>T (p.Arg268Cys) rs763496524
NM_000128.3(F11):c.901T>C (p.Phe301Leu) rs121965064

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.