ClinVar Miner

List of variants reported as uncertain significance for X-linked distal spinal muscular atrophy type 3 by Baylor Genetics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000052.7(ATP7A):c.2242G>A (p.Val748Ile) rs782104015 0.00003
NM_000052.7(ATP7A):c.1047T>A (p.Ser349Arg) rs2077658544
NM_000052.7(ATP7A):c.1406A>G (p.Glu469Gly) rs1377636628
NM_000052.7(ATP7A):c.3284A>G (p.Tyr1095Cys) rs2522397473
NM_000052.7(ATP7A):c.3947T>G (p.Ile1316Ser) rs2522419371
NM_000052.7(ATP7A):c.722A>G (p.Gln241Arg) rs2077656389

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.