ClinVar Miner

List of variants studied for coenzyme Q10 deficiency by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_016035.5(COQ4):c.718C>T (p.Arg240Cys) rs143441644 0.00017
NM_182476.3(COQ6):c.782C>T (p.Pro261Leu) rs371260604 0.00011
NM_001358921.2(COQ2):c.440G>A (p.Arg147His) rs121918231 0.00003
NM_020247.5(COQ8A):c.638G>A (p.Arg213Gln) rs767584322 0.00003
NM_001358921.2(COQ2):c.287G>A (p.Ser96Asn) rs121918233 0.00002
NM_020247.5(COQ8A):c.911C>T (p.Ala304Val) rs748118737 0.00002
NM_016035.5(COQ4):c.469C>A (p.Gln157Lys) rs1045118320 0.00001
NM_001358921.2(COQ2):c.220T>A (p.Tyr74Asn) rs1577993720
NM_016035.5(COQ4):c.437T>G (p.Phe146Cys) rs1163170578
NM_020247.5(COQ8A):c.1013C>T (p.Ala338Val) rs767406263
NM_020247.5(COQ8A):c.175C>T (p.Gln59Ter) rs1572040505
NM_020247.5(COQ8A):c.656-1G>T rs903436781
NM_020312.4(COQ9):c.521+1del rs786205897
NM_182476.3(COQ6):c.1079G>T (p.Arg360Leu) rs367817034
NM_182476.3(COQ6):c.1237G>T (p.Glu413Ter) rs1594816203

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