ClinVar Miner

List of variants in gene COQ8A reported as likely benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_020247.5(COQ8A):c.854-82C>T rs72760489 0.01393
NM_020247.5(COQ8A):c.*133G>A rs149820067 0.01173
NM_020247.5(COQ8A):c.854-28C>T rs145767302 0.01097
NM_020247.5(COQ8A):c.589-130G>A rs116410904 0.00966
NM_020247.5(COQ8A):c.1660-268A>G rs79118974 0.00899
NM_020247.5(COQ8A):c.*790A>G rs12565212 0.00855
NM_020247.5(COQ8A):c.655+215G>A rs75936420 0.00780
NM_020247.5(COQ8A):c.1660-212G>A rs114075249 0.00664
NM_020247.5(COQ8A):c.*727C>T rs16846762 0.00659
NM_020247.5(COQ8A):c.731-255G>A rs115795260 0.00659
NM_020247.5(COQ8A):c.853+199G>C rs115291753 0.00658
NM_020247.5(COQ8A):c.178-99G>A rs145473658 0.00656
NM_020247.5(COQ8A):c.730+209C>T rs112822132 0.00530
NM_020247.5(COQ8A):c.1163-54G>T rs531785041 0.00483
NM_020247.5(COQ8A):c.731-27G>A rs200907185 0.00351
NM_020247.5(COQ8A):c.1824C>T (p.Ser608=) rs141270350 0.00152
NM_020247.5(COQ8A):c.*9G>A rs200743857 0.00142
NM_020247.5(COQ8A):c.989A>G (p.Tyr330Cys) rs150243147 0.00127
NM_020247.5(COQ8A):c.240C>T (p.His80=) rs113667144 0.00068
NM_020247.5(COQ8A):c.62C>T (p.Ala21Val) rs142184584 0.00027
NM_020247.5(COQ8A):c.1188C>T (p.Asp396=) rs139133094 0.00026
NM_020247.5(COQ8A):c.891C>T (p.Phe297=) rs55968053 0.00013
NM_020247.5(COQ8A):c.1011C>T (p.Ala337=) rs36006006 0.00011
NM_020247.5(COQ8A):c.1752C>T (p.Thr584=) rs201865243 0.00011
NM_020247.5(COQ8A):c.1257-20G>C rs752645843 0.00009
NM_020247.5(COQ8A):c.853+13G>A rs374691420 0.00009
NM_020247.5(COQ8A):c.789C>T (p.Ile263=) rs375123701 0.00007
NM_020247.5(COQ8A):c.1399-14C>T rs148742677 0.00006
NM_020247.5(COQ8A):c.588+4C>T rs368446029 0.00006
NM_020247.5(COQ8A):c.1809C>T (p.Pro603=) rs774789966 0.00005
NM_020247.5(COQ8A):c.589-18T>C rs143981558 0.00002
NM_020247.5(COQ8A):c.594C>T (p.Ser198=) rs138547552 0.00002
NM_020247.5(COQ8A):c.1140C>T (p.Asn380=) rs367878969 0.00001
NM_020247.5(COQ8A):c.1287T>C (p.Tyr429=) rs1256698126 0.00001
NM_020247.5(COQ8A):c.1613G>A (p.Arg538Gln) rs768524626 0.00001
NM_020247.5(COQ8A):c.1753G>C (p.Glu585Gln) rs758986425 0.00001
NM_020247.5(COQ8A):c.1773T>C (p.Ile591=) rs369502091 0.00001
NM_020247.5(COQ8A):c.445C>T (p.Pro149Ser) rs863223882 0.00001
NM_020247.5(COQ8A):c.497A>G (p.Asp166Gly) rs863223883 0.00001
NM_020247.5(COQ8A):c.957C>T (p.Asp319=) rs764147237 0.00001
NC_000001.11:g.226987594T>G rs78251168
NC_000001.11:g.226987720C>T rs7549043
NM_020247.5(COQ8A):c.*761G>A rs145779574
NM_020247.5(COQ8A):c.1110T>C (p.Ser370=) rs1179877249
NM_020247.5(COQ8A):c.1162+7G>C rs1024405380
NM_020247.5(COQ8A):c.1191G>A (p.Val397=) rs751845468
NM_020247.5(COQ8A):c.1256+11C>T rs564593360
NM_020247.5(COQ8A):c.1317C>T (p.Ser439=) rs1553280571
NM_020247.5(COQ8A):c.1671C>T (p.Asp557=) rs370899166
NM_020247.5(COQ8A):c.1800C>G (p.Val600=) rs74589348
NM_020247.5(COQ8A):c.1800C>T (p.Val600=) rs74589348
NM_020247.5(COQ8A):c.1833G>A (p.Arg611=) rs753431843
NM_020247.5(COQ8A):c.731-161T>C rs143481309
NM_020247.5(COQ8A):c.853+47G>A rs116286528
NM_020247.5(COQ8A):c.942A>G (p.Lys314=) rs773910863

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