List of variants reported as uncertain significance for cerebellar ataxia by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004715.5(CTDP1):c.1219T>C (p.Trp407Arg)	rs149090172	0.00103
NM_152617.4(RNF168):c.529G>A (p.Glu177Lys)	rs112513009	0.00080
NM_020247.5(COQ8A):c.67G>A (p.Val23Met)	rs35582308	0.00058
NM_020247.5(COQ8A):c.730G>C (p.Gly244Arg)	rs199619932	0.00048
NM_152617.4(RNF168):c.1019C>T (p.Ser340Leu)	rs187146687	0.00017
NM_018319.4(TDP1):c.208T>A (p.Ser70Thr)	rs140058160	0.00014
NM_018319.4(TDP1):c.1799C>T (p.Thr600Met)	rs772139596	0.00003
NM_018319.4(TDP1):c.1793C>T (p.Pro598Leu)	rs113382706	0.00002
NC_000010.11:g.3166389_3166390insAGAGAGGAATGGCACGCTAGGGAAG
NM_001001344.3(ATP2B3):c.472G>T (p.Ala158Ser)
NM_001134831.2(AHI1):c.*1A>C
NM_001134831.2(AHI1):c.3109+6788A>C
NM_001510.4(GRID2):c.101A>G (p.Asp34Gly)
NM_014889.4(PITRM1):c.1634G>A (p.Arg545Gln)
NM_020247.5(COQ8A):c.1285T>C (p.Tyr429His)	rs2148132744

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.