ClinVar Miner

List of variants studied for Primary coenzyme Q10 deficiency 8

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_016138.5(COQ7):c.73+36T>G rs4531717 0.93661
NM_016138.5(COQ7):c.74-29A>G rs4782202 0.91365
NM_016138.5(COQ7):c.308C>T (p.Thr103Met) rs11074359 0.54635
NM_016138.5(COQ7):c.319C>T (p.Arg107Trp) rs769570290 0.00004
NM_016138.5(COQ7):c.446A>G (p.Tyr149Cys) rs760710474 0.00003
NM_016138.5(COQ7):c.161G>A (p.Arg54Gln) rs770654508 0.00001
NM_016138.5(COQ7):c.3G>T (p.Met1Ile) rs746489573 0.00001
NM_016138.5(COQ7):c.160C>T (p.Arg54Trp)
NM_016138.5(COQ7):c.1A>C (p.Met1Leu)
NM_016138.5(COQ7):c.218T>A (p.Val73Asp)
NM_016138.5(COQ7):c.28_44dup (p.Arg16fs)
NM_016138.5(COQ7):c.332T>C (p.Leu111Pro)
NM_016138.5(COQ7):c.334A>G (p.Met112Val)
NM_016138.5(COQ7):c.367+5G>A
NM_016138.5(COQ7):c.422T>A (p.Val141Glu) rs864321686
NM_016138.5(COQ7):c.599_600delinsTAATGCATC (p.Lys200fs) rs1962955145
NM_016138.5(COQ7):c.613_617delinsCAT (p.Ala205fs)
NM_016138.5(COQ7):c.635_636del (p.Tyr212fs) rs2142400288
NM_016138.5(COQ7):c.9C>A (p.Cys3Ter) rs369616615

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