ClinVar Miner

List of variants in gene IL17RA reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014339.7(IL17RA):c.186G>A (p.Trp62Ter) rs1330723939 0.00001
NM_014339.7(IL17RA):c.1159G>A (p.Asp387Asn) rs1057519079
NM_014339.7(IL17RA):c.1302_1318dup (p.Asn440fs) rs1057518744
NM_014339.7(IL17RA):c.166_169dup (p.Cys57fs) rs1601340933
NM_014339.7(IL17RA):c.185G>A (p.Trp62Ter)
NM_014339.7(IL17RA):c.196C>T (p.Arg66Ter) rs1057518745
NM_014339.7(IL17RA):c.205del (p.Thr69fs)
NM_014339.7(IL17RA):c.213dup (p.Ser72fs) rs2123798029
NM_014339.7(IL17RA):c.233del (p.Ile78fs) rs1321690789
NM_014339.7(IL17RA):c.268del (p.Leu90fs) rs1057518746
NM_014339.7(IL17RA):c.680_681insG (p.Thr228fs)
NM_014339.7(IL17RA):c.705del (p.Ser236fs)
NM_014339.7(IL17RA):c.769_773del (p.Pro257fs) rs1057518747
NM_014339.7(IL17RA):c.787C>T (p.Arg263Ter) rs778624945
NM_014339.7(IL17RA):c.850C>T (p.Gln284Ter) rs387906913

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.