ClinVar Miner

Variants in gene COQ8A with conflicting interpretations

See also:
Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
539 142 0 50 40 1 12 92

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign protective other
pathogenic 0 13 7 0 1 0 0
likely pathogenic 14 0 6 1 1 1 1
uncertain significance 7 5 0 39 6 0 0
likely benign 0 0 39 0 36 0 0
benign 1 0 6 36 0 0 0

All variants with conflicting interpretations #

Total variants: 92
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020247.5(COQ8A):c.1716T>C (p.Ser572=) rs3738725 0.42035
NM_020247.5(COQ8A):c.1573-20C>G rs2297416 0.38143
NM_020247.5(COQ8A):c.117G>A (p.Ala39=) rs11549708 0.16388
NM_020247.5(COQ8A):c.*681G>A rs10482 0.06118
NM_020247.5(COQ8A):c.255T>G (p.His85Gln) rs2297411 0.04148
NM_020247.5(COQ8A):c.993C>T (p.Phe331=) rs41303129 0.01390
NM_020247.5(COQ8A):c.63G>A (p.Ala21=) rs11549709 0.01280
NM_020247.5(COQ8A):c.1053C>T (p.Gly351=) rs55958233 0.01103
NM_020247.5(COQ8A):c.*349G>A rs113041399 0.00729
NM_020247.5(COQ8A):c.*727C>T rs16846762 0.00659
NM_020247.5(COQ8A):c.291C>T (p.Ser97=) rs111529228 0.00567
NM_020247.5(COQ8A):c.1185C>T (p.Ile395=) rs17849927 0.00488
NM_020247.5(COQ8A):c.384C>T (p.Ala128=) rs139970507 0.00250
NM_020247.5(COQ8A):c.948C>T (p.Leu316=) rs55637780 0.00229
NM_020247.5(COQ8A):c.618G>A (p.Val206=) rs115855910 0.00220
NM_020247.5(COQ8A):c.298G>T (p.Asp100Tyr) rs150696959 0.00153
NM_020247.5(COQ8A):c.1824C>T (p.Ser608=) rs141270350 0.00152
NM_020247.5(COQ8A):c.1914C>T (p.Ser638=) rs56043893 0.00141
NM_020247.5(COQ8A):c.238C>T (p.His80Tyr) rs76249490 0.00140
NM_020247.5(COQ8A):c.989A>G (p.Tyr330Cys) rs150243147 0.00127
NM_020247.5(COQ8A):c.1876C>T (p.Arg626Cys) rs141725964 0.00089
NM_020247.5(COQ8A):c.1378A>G (p.Ser460Gly) rs149364914 0.00071
NM_020247.5(COQ8A):c.1797C>T (p.Leu599=) rs139551241 0.00070
NM_020247.5(COQ8A):c.67G>A (p.Val23Met) rs35582308 0.00058
NM_020247.5(COQ8A):c.730G>C (p.Gly244Arg) rs199619932 0.00048
NM_020247.5(COQ8A):c.258A>C (p.Ala86=) rs137872711 0.00043
NM_020247.5(COQ8A):c.1399-13G>A rs73087649 0.00041
NM_020247.5(COQ8A):c.1089C>T (p.Gly363=) rs139570869 0.00034
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.1286A>G (p.Tyr429Cys) rs144147839 0.00025
NM_020247.5(COQ8A):c.1900G>A (p.Glu634Lys) rs149335528 0.00022
NM_020247.5(COQ8A):c.1665G>A (p.Met555Ile) rs199874519 0.00016
NM_020247.5(COQ8A):c.730+7C>T rs370924314 0.00016
NM_020247.5(COQ8A):c.1258G>A (p.Asp420Asn) rs147097934 0.00014
NM_020247.5(COQ8A):c.1572+7G>A rs371874740 0.00014
NM_020247.5(COQ8A):c.1644C>T (p.Thr548=) rs141423403 0.00013
NM_020247.5(COQ8A):c.1011C>T (p.Ala337=) rs36006006 0.00011
NM_020247.5(COQ8A):c.1698G>A (p.Leu566=) rs543820987 0.00011
NM_020247.5(COQ8A):c.1899C>T (p.Phe633=) rs150569155 0.00008
NM_020247.5(COQ8A):c.794G>A (p.Arg265His) rs199696414 0.00008
NM_020247.5(COQ8A):c.1081-6C>T rs774626751 0.00007
NM_020247.5(COQ8A):c.1612C>T (p.Arg538Trp) rs201331131 0.00007
NM_020247.5(COQ8A):c.588+4C>T rs368446029 0.00006
NM_020247.5(COQ8A):c.1000C>T (p.Arg334Trp) rs373971613 0.00005
NM_020247.5(COQ8A):c.1407C>T (p.Tyr469=) rs773258464 0.00005
NM_020247.5(COQ8A):c.1554C>T (p.Phe518=) rs747135135 0.00005
NM_020247.5(COQ8A):c.1809C>T (p.Pro603=) rs774789966 0.00005
NM_020247.5(COQ8A):c.798G>A (p.Thr266=) rs750042754 0.00005
NM_020247.5(COQ8A):c.1228C>T (p.Arg410Ter) rs753254213 0.00004
NM_020247.5(COQ8A):c.1711G>A (p.Ala571Thr) rs762900727 0.00004
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527 0.00004
NM_020247.5(COQ8A):c.771G>A (p.Glu257=) rs371867831 0.00003
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.1651G>A (p.Glu551Lys) rs119468004 0.00002
NM_020247.5(COQ8A):c.1742dup (p.Ser582fs) rs772127266 0.00002
NM_020247.5(COQ8A):c.731-9C>T rs367603340 0.00002
NM_020247.5(COQ8A):c.901C>T (p.Arg301Trp) rs140246430 0.00002
NM_020247.5(COQ8A):c.911C>T (p.Ala304Val) rs748118737 0.00002
NM_020247.5(COQ8A):c.1049A>G (p.Lys350Arg) rs548317868 0.00001
NM_020247.5(COQ8A):c.1399-12C>T rs377529632 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.358G>A (p.Val120Met) rs376347405 0.00001
NM_020247.5(COQ8A):c.637C>T (p.Arg213Trp) rs119468005 0.00001
NM_020247.5(COQ8A):c.819G>A (p.Ala273=) rs371866536 0.00001
NM_020247.5(COQ8A):c.909C>T (p.Ser303=) rs202036077 0.00001
NM_020247.5(COQ8A):c.957C>T (p.Asp319=) rs764147237 0.00001
NM_020247.5(COQ8A):c.*761G>A rs145779574
NM_020247.5(COQ8A):c.1256+11C>G rs564593360
NM_020247.5(COQ8A):c.1398+12C>A rs774158999
NM_020247.5(COQ8A):c.1440C>T (p.Phe480=) rs12593
NM_020247.5(COQ8A):c.1625_1626del (p.Ile542fs) rs751637699
NM_020247.5(COQ8A):c.1671C>T (p.Asp557=) rs370899166
NM_020247.5(COQ8A):c.1713C>A (p.Ala571=) rs886046069
NM_020247.5(COQ8A):c.1744dup (p.Ser582fs) rs1553281318
NM_020247.5(COQ8A):c.1747ACC[1] (p.Thr584del) rs387906299
NM_020247.5(COQ8A):c.1792dup (p.Arg598fs)
NM_020247.5(COQ8A):c.1800C>G (p.Val600=) rs74589348
NM_020247.5(COQ8A):c.1805C>A (p.Pro602Gln) rs61995958
NM_020247.5(COQ8A):c.1805C>G (p.Pro602Arg) rs61995958
NM_020247.5(COQ8A):c.1805C>T (p.Pro602Leu) rs61995958
NM_020247.5(COQ8A):c.1806dup (p.Pro603fs)
NM_020247.5(COQ8A):c.1821C>A (p.Tyr607Ter) rs201618750
NM_020247.5(COQ8A):c.1830C>T (p.His610=)
NM_020247.5(COQ8A):c.1936C>A (p.Gln646Lys) rs555171534
NM_020247.5(COQ8A):c.322G>C (p.Gly108Arg)
NM_020247.5(COQ8A):c.521C>A (p.Thr174Lys) rs181579601
NM_020247.5(COQ8A):c.697G>A (p.Ala233Thr) rs376462712
Single allele rs1553281318

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