ClinVar Miner

List of variants in gene COQ8A reported as pathogenic by Invitae

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_020247.5(COQ8A):c.1665G>A (p.Met555Ile) rs199874519 0.00016
NM_020247.5(COQ8A):c.1042C>T (p.Arg348Ter) rs771578775 0.00006
NM_020247.5(COQ8A):c.1228C>T (p.Arg410Ter) rs753254213 0.00004
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527 0.00004
NM_020247.5(COQ8A):c.812G>A (p.Arg271His) rs765859566 0.00003
NM_020247.5(COQ8A):c.895C>T (p.Arg299Trp) rs201908721 0.00003
NM_020247.5(COQ8A):c.1742dup (p.Ser582fs) rs772127266 0.00002
NM_020247.5(COQ8A):c.901C>T (p.Arg301Trp) rs140246430 0.00002
NM_020247.5(COQ8A):c.1136T>A (p.Leu379Ter) rs747150601 0.00001
NM_020247.5(COQ8A):c.491dup (p.His164fs) rs778247643 0.00001
NM_020247.5(COQ8A):c.589-3C>G rs1229054489 0.00001
NM_020247.5(COQ8A):c.629_630del (p.Arg210fs) rs745867840 0.00001
NC_000001.10:g.(?_227149087)_(227174438_?)del
NC_000001.10:g.(?_227165130)_(227174438_?)del
NM_020247.5(COQ8A):c.1015G>A (p.Ala339Thr) rs755933881
NM_020247.5(COQ8A):c.1225C>T (p.Gln409Ter)
NM_020247.5(COQ8A):c.1232_1233del (p.Glu411fs)
NM_020247.5(COQ8A):c.1266_1267insT (p.Lys423Ter) rs2148132672
NM_020247.5(COQ8A):c.1315dup (p.Ser439fs)
NM_020247.5(COQ8A):c.1358del (p.Leu453fs) rs1271428051
NM_020247.5(COQ8A):c.1506+1G>A rs974677376
NM_020247.5(COQ8A):c.1632dup (p.Lys545fs)
NM_020247.5(COQ8A):c.1681dup (p.Asp561fs)
NM_020247.5(COQ8A):c.1792dup (p.Arg598fs)
NM_020247.5(COQ8A):c.1805C>G (p.Pro602Arg) rs61995958
NM_020247.5(COQ8A):c.1806dup (p.Pro603fs)
NM_020247.5(COQ8A):c.1821C>A (p.Tyr607Ter) rs201618750
NM_020247.5(COQ8A):c.1844dup (p.Ser616fs) rs764847439
NM_020247.5(COQ8A):c.250_253del (p.Pro84fs)
NM_020247.5(COQ8A):c.478C>T (p.Arg160Ter) rs756589820
NM_020247.5(COQ8A):c.638_645del (p.Arg213fs) rs886042265
NM_020247.5(COQ8A):c.650del (p.Phe217fs)
NM_020247.5(COQ8A):c.815G>T (p.Gly272Val) rs119468006
NM_020247.5(COQ8A):c.972G>A (p.Trp324Ter) rs1350444582

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