ClinVar Miner

List of variants in gene FKRP reported as uncertain significance by Genetic Services Laboratory, University of Chicago

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
Download table as spreadsheet
NM_024301.5(FKRP):c.1027G>C (p.Glu343Gln) rs587780334
NM_024301.5(FKRP):c.1140G>A (p.Gly380=) rs552260353
NM_024301.5(FKRP):c.1177G>A (p.Val393Ile) rs140679502
NM_024301.5(FKRP):c.1190C>T (p.Ala397Val) rs767570224
NM_024301.5(FKRP):c.11C>G (p.Thr4Ser) rs771333733
NM_024301.5(FKRP):c.426G>T (p.Glu142Asp) rs797045575
NM_024301.5(FKRP):c.456C>G (p.Ser152Arg) rs199714523
NM_024301.5(FKRP):c.483C>T (p.Ala161=) rs797045576
NM_024301.5(FKRP):c.563C>T (p.Ala188Val) rs768762059
NM_024301.5(FKRP):c.699G>A (p.Val233=) rs764527541
NM_024301.5(FKRP):c.731G>A (p.Arg244His) rs764641619
NM_024301.5(FKRP):c.898G>A (p.Val300Met) rs563033008

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.