ClinVar Miner

List of variants studied for Coenzyme Q10 deficiency by GeneReviews

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001358921.2(COQ2):c.533A>G (p.Asn178Ser) rs121918232 0.00009
NM_001358921.2(COQ2):c.232A>G (p.Met78Val) rs778094136 0.00006
NM_001358921.2(COQ2):c.440G>A (p.Arg147His) rs121918231 0.00003
NM_001358921.2(COQ2):c.287G>A (p.Ser96Asn) rs121918233 0.00002
NM_001358921.2(COQ2):c.1009C>T (p.Arg337Ter) rs751185256 0.00001
NM_001358921.2(COQ2):c.1047del (p.Asn351fs) rs750710187
NM_001358921.2(COQ2):c.395T>G (p.Met132Arg) rs1057519348
NM_001358921.2(COQ2):c.740A>G (p.Tyr247Cys) rs121918230
NM_001358921.2(COQ2):c.755C>T (p.Ala252Val) rs762616589

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