ClinVar Miner

List of variants in gene ARX reported as benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_139058.3(ARX):c.1073+191C>T rs73473563 0.14834
NM_139058.3(ARX):c.1073+225C>T rs73207283 0.09240
NM_139058.3(ARX):c.1347C>T (p.Gly449=) rs75489697 0.01993
NM_139058.3(ARX):c.1671G>A (p.Thr557=) rs190910161 0.00349
NM_139058.3(ARX):c.1074-3T>C rs200700643 0.00337
NM_139058.3(ARX):c.-83C>A rs751531684 0.00114
NM_139058.3(ARX):c.802G>T (p.Val268Leu) rs587783141 0.00093
NM_139058.3(ARX):c.1247C>G (p.Ala416Gly) rs778734352 0.00023
NM_139058.3(ARX):c.663C>T (p.Thr221=) rs1006404746 0.00017
NM_139058.3(ARX):c.1119+6C>T rs201300786 0.00015
NM_139058.3(ARX):c.148T>C (p.Leu50=) rs370342380 0.00015
NM_139058.3(ARX):c.1599C>G (p.Ala533=) rs1057523196 0.00012
NM_139058.3(ARX):c.223T>G (p.Phe75Val) rs999545482 0.00005
NM_139058.3(ARX):c.99G>A (p.Leu33=) rs756804509 0.00004
NM_139058.3(ARX):c.1524G>A (p.Val508=) rs1056460685 0.00002
NM_139058.3(ARX):c.1521C>A (p.Ala507=) rs777179729 0.00001
NM_139058.3(ARX):c.543C>T (p.Pro181=) rs587780854 0.00001
NM_139058.3(ARX):c.738C>T (p.Asp246=) rs750465338 0.00001
NM_139058.3(ARX):c.807C>T (p.Ala269=) rs587783205 0.00001
NM_139058.3(ARX):c.1073+20G>A
NM_139058.3(ARX):c.1120-157C>G rs192363904
NM_139058.3(ARX):c.1186C>A (p.Pro396Thr) rs776523818
NM_139058.3(ARX):c.1204G>A (p.Gly402Arg) rs2048682884
NM_139058.3(ARX):c.1272G>T (p.Pro424=) rs398124507
NM_139058.3(ARX):c.1296C>T (p.Ala432=) rs990653917
NM_139058.3(ARX):c.1300GCC[8] (p.Ala440dup) rs398124508
NM_139058.3(ARX):c.1300GCC[9] (p.Ala439_Ala440dup) rs398124508
NM_139058.3(ARX):c.1333C>T (p.Pro445Ser) rs2147320407
NM_139058.3(ARX):c.1345G>A (p.Gly449Ser) rs2147320401
NM_139058.3(ARX):c.1448+161dup rs375420492
NM_139058.3(ARX):c.215G>C (p.Ser72Thr) rs1556056580

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.