ClinVar Miner

List of variants in gene ARX 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
HGVS dbSNP gnomAD frequency
NM_139058.3(ARX):c.1462A>G (p.Met488Val) rs767404024 0.00004
NM_139058.3(ARX):c.1281C>T (p.Asp427=) rs587783185 0.00002
NM_139058.3(ARX):c.1561G>A (p.Ala521Thr) rs746120093 0.00002
NM_139058.3(ARX):c.1065_1066insCTTGTC (p.Val355_Phe356insLeuVal) rs1556054826
NM_139058.3(ARX):c.1135C>G (p.Arg379Gly) rs1556049714
NM_139058.3(ARX):c.1400G>T (p.Gly467Val) rs587783188
NM_139058.3(ARX):c.1425T>C (p.Ala475=) rs2147320329
NM_139058.3(ARX):c.1448G>A (p.Arg483Lys) rs587783190
NM_139058.3(ARX):c.625G>C (p.Gly209Arg) rs587783203
NM_139058.3(ARX):c.651G>T (p.Ala217=) rs587783204
NM_139058.3(ARX):c.747G>A (p.Glu249=) rs797045305
NM_139058.3(ARX):c.88G>T (p.Asp30Tyr) rs587783207

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.