ClinVar Miner

List of variants in gene COQ2 reported as uncertain significance for Coenzyme Q10 deficiency, primary, 1; Multiple system atrophy 1, susceptibility to

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001358921.2(COQ2):c.310G>A (p.Gly104Ser) rs146983090 0.00054
NM_001358921.2(COQ2):c.808C>T (p.Arg270Trp) rs886059669 0.00048
NM_001358921.2(COQ2):c.809G>A (p.Arg270Gln) rs200217650 0.00015
NM_001358921.2(COQ2):c.451G>A (p.Ala151Thr) rs372949213 0.00007
NM_001358921.2(COQ2):c.830C>T (p.Pro277Leu) rs374567167 0.00005
NM_001358921.2(COQ2):c.368G>A (p.Arg123His) rs752363398 0.00003
NM_001358921.2(COQ2):c.676G>T (p.Gly226Cys) rs553681443 0.00002
NM_001358921.2(COQ2):c.889A>T (p.Ser297Cys) rs566845170 0.00002
NM_001358921.2(COQ2):c.925G>T (p.Ala309Ser) rs771166601 0.00001
NM_001358921.2(COQ2):c.1067AGA[1] (p.Lys357del) rs765403087

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