ClinVar Miner

List of variants in gene TOP3A studied for hereditary skeletal muscle disorder

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004618.5(TOP3A):c.1282-21G>A rs6502645 0.98602
NM_004618.5(TOP3A):c.391-10C>T rs7207123 0.39970
NM_004618.5(TOP3A):c.2022-39C>A rs6502644 0.31103
NM_004618.5(TOP3A):c.1527C>T (p.Asp509=) rs2230154 0.26761
NM_004618.5(TOP3A):c.916-49G>A rs2294913 0.21931
NM_004618.5(TOP3A):c.315-4C>G rs7217776 0.02640
NM_004618.5(TOP3A):c.180+10C>G rs17805992 0.00515
NM_004618.5(TOP3A):c.2317A>G (p.Asn773Asp) rs9911283 0.00364
NM_004618.5(TOP3A):c.403C>T (p.Arg135Ter) rs200944917 0.00006
NM_004618.5(TOP3A):c.298A>G (p.Met100Val) rs376902371 0.00004
NM_004618.5(TOP3A):c.1723A>G (p.Met575Val) rs372121045 0.00002
NM_004618.5(TOP3A):c.1982G>A (p.Cys661Tyr) rs1214589149 0.00001
NM_004618.5(TOP3A):c.1468-11G>T rs3817992
NM_004618.5(TOP3A):c.241-13T>G rs1981719689
NM_004618.5(TOP3A):c.614A>G (p.Asp205Gly)
NM_004618.5(TOP3A):c.865C>T (p.Arg289Ter)
NM_004618.5(TOP3A):c.899_900del (p.Tyr300fs) rs1597981046

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.