ClinVar Miner

List of variants reported as likely pathogenic for Autosomal recessive ataxia due to ubiquinone deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020247.5(COQ8A):c.1665G>A (p.Met555Ile) rs199874519 0.00016
NM_020247.5(COQ8A):c.1000C>T (p.Arg334Trp) rs373971613 0.00005
NM_020247.5(COQ8A):c.1532C>T (p.Thr511Met) rs578189699 0.00005
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527 0.00004
NM_020247.5(COQ8A):c.638G>A (p.Arg213Gln) rs767584322 0.00003
NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys) rs119468004 0.00002
NM_020247.5(COQ8A):c.901C>T (p.Arg301Trp) rs140246430 0.00002
NM_020247.5(COQ8A):c.911C>T (p.Ala304Val) rs748118737 0.00002
NM_020247.5(COQ8A):c.588+1G>C rs1474965033 0.00001
NM_020247.5(COQ8A):c.637C>T (p.Arg213Trp) rs119468005 0.00001
NM_020247.5(COQ8A):c.1003C>T (p.Pro335Ser) rs1487879565
NM_020247.5(COQ8A):c.1007del (p.Phe336fs) rs1085307053
NM_020247.5(COQ8A):c.1013C>T (p.Ala338Val) rs767406263
NM_020247.5(COQ8A):c.1015G>A (p.Ala339Thr) rs755933881
NM_020247.5(COQ8A):c.1081-1_1082dup rs1057519344
NM_020247.5(COQ8A):c.1081-2A>G
NM_020247.5(COQ8A):c.1088dup (p.Val364fs)
NM_020247.5(COQ8A):c.1229G>A (p.Arg410Gln) rs763311061
NM_020247.5(COQ8A):c.1376T>C (p.Leu459Pro) rs1433323183
NM_020247.5(COQ8A):c.1467dup (p.Asn490fs)
NM_020247.5(COQ8A):c.1573-1dup
NM_020247.5(COQ8A):c.1625_1626del (p.Ile542fs) rs751637699
NM_020247.5(COQ8A):c.1744dup (p.Ser582fs) rs1553281318
NM_020247.5(COQ8A):c.1747ACC[1] (p.Thr584del) rs387906299
NM_020247.5(COQ8A):c.1821C>A (p.Tyr607Ter) rs201618750
NM_020247.5(COQ8A):c.1838_1851del (p.Met613fs)
NM_020247.5(COQ8A):c.32del (p.Val11fs)
NM_020247.5(COQ8A):c.620C>T (p.Pro207Leu)
NM_020247.5(COQ8A):c.638_645del (p.Arg213fs) rs886042265
NM_020247.5(COQ8A):c.802T>C (p.Cys268Arg)
NM_020247.5(COQ8A):c.815G>C (p.Gly272Ala)
NM_020247.5(COQ8A):c.836A>C (p.Gln279Pro) rs1659738028
NM_020247.5(COQ8A):c.902G>A (p.Arg301Gln)

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.