ClinVar Miner

List of variants in gene COQ8A reported as pathogenic for brain disorder

Included ClinVar conditions (1840):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_020247.5(COQ8A):c.993C>T (p.Phe331=) rs41303129 0.01390
NM_020247.5(COQ8A):c.1042C>T (p.Arg348Ter) rs771578775 0.00006
NM_020247.5(COQ8A):c.1645G>A (p.Gly549Ser) rs119468009 0.00006
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527 0.00004
NM_020247.5(COQ8A):c.895C>T (p.Arg299Trp) rs201908721 0.00003
NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys) rs119468004 0.00002
NM_020247.5(COQ8A):c.1541A>G (p.Tyr514Cys) rs119468008 0.00001
NM_020247.5(COQ8A):c.1706C>A (p.Ala569Asp) rs765235707 0.00001
NM_020247.5(COQ8A):c.589-3C>G rs1229054489 0.00001
NM_020247.5(COQ8A):c.637C>T (p.Arg213Trp) rs119468005 0.00001
GRCh37/hg19 1q42.13(chr1:227149087-227149264)
NM_020247.4(ADCK3):c.[1042C>T;1651G>A]
NM_020247.5(COQ8A):c.127del (p.Leu43fs) rs754586499
NM_020247.5(COQ8A):c.1334_1335del (p.Thr445fs) rs797045217
NM_020247.5(COQ8A):c.1358del (p.Leu453fs) rs1271428051
NM_020247.5(COQ8A):c.1396del (p.Glu466fs) rs1553280621
NM_020247.5(COQ8A):c.1398+2T>C rs606231138
NM_020247.5(COQ8A):c.1506+1G>A rs974677376
NM_020247.5(COQ8A):c.1579dup (p.Arg527fs)
NM_020247.5(COQ8A):c.1747ACC[1] (p.Thr584del) rs387906299
NM_020247.5(COQ8A):c.175C>T (p.Gln59Ter) rs1572040505
NM_020247.5(COQ8A):c.1813dup (p.Glu605fs) rs387906298
NM_020247.5(COQ8A):c.1844G>A (p.Gly615Asp) rs752130338
NM_020247.5(COQ8A):c.1844dup (p.Ser616fs) rs764847439
NM_020247.5(COQ8A):c.500_521delinsTTG (p.Gln167fs) rs606231139
NM_020247.5(COQ8A):c.656-1G>T rs903436781
NM_020247.5(COQ8A):c.814G>T (p.Gly272Cys) rs1659735679
NM_020247.5(COQ8A):c.815G>A (p.Gly272Asp) rs119468006
NM_020247.5(COQ8A):c.815G>T (p.Gly272Val) rs119468006
NM_020247.5(COQ8A):c.830T>C (p.Leu277Pro) rs781518112

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