ClinVar Miner

List of variants studied for coenzyme Q10 deficiency by Centogene AG - the Rare Disease Company

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_016035.5(COQ4):c.533G>A (p.Gly178Glu) rs754865584 0.00002
NM_016035.5(COQ4):c.458C>T (p.Ala153Val) rs757173567 0.00001
NM_016035.5(COQ4):c.437T>G (p.Phe146Cys) rs1163170578
NM_020247.5(COQ8A):c.1747ACC[1] (p.Thr584del) rs387906299

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