ClinVar Miner

List of variants studied for autosomal recessive degenerative and progressive cerebellar ataxia by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000144.5(FXN):c.54A>G (p.Pro18=) rs2481598 0.98511
NM_004715.5(CTDP1):c.2817T>C (p.Asp939=) rs626169 0.90284
NM_022464.5(SIL1):c.153A>G (p.Thr51=) rs3088052 0.50252
NM_014053.4(FLVCR1):c.154G>C (p.Ala52Pro) rs11120047 0.45814
NM_014053.4(FLVCR1):c.1631C>T (p.Thr544Met) rs3207090 0.38895
NM_014053.4(FLVCR1):c.1307+19T>A rs2291772 0.21660
NM_014053.4(FLVCR1):c.1593+9T>C rs17019870 0.21623
NM_004715.5(CTDP1):c.978G>A (p.Thr326=) rs599554 0.20817
NM_004715.5(CTDP1):c.1461G>A (p.Pro487=) rs2126082 0.18278

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.