ClinVar Miner

List of variants studied for Autosomal recessive ataxia due to ubiquinone deficiency by Baylor Genetics

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_020247.5(COQ8A):c.1677C>G (p.His559Gln) rs200963031 0.00036
NM_020247.5(COQ8A):c.1286A>G (p.Tyr429Cys) rs144147839 0.00025
NM_020247.5(COQ8A):c.1097A>G (p.Gln366Arg) rs759470563 0.00007
NM_020247.5(COQ8A):c.263G>T (p.Gly88Val) rs141687205 0.00006
NM_020247.5(COQ8A):c.664G>A (p.Val222Met) rs372435075 0.00006
NM_020247.5(COQ8A):c.785G>A (p.Arg262Gln) rs145422777 0.00004
NM_020247.5(COQ8A):c.1247G>A (p.Arg416His) rs767899984 0.00003
NM_020247.5(COQ8A):c.1821C>A (p.Tyr607Ter) rs201618750
NM_020247.5(COQ8A):c.578A>G (p.His193Arg)
NM_020247.5(COQ8A):c.638_645del (p.Arg213fs) rs886042265

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