ClinVar Miner

Variants in gene COQ8A with conflicting interpretations

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 Variants with at least 2 submissions 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 kind of conflict
101 59 0 16 13 0 7 32

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
pathogenic 0 3 3 1 1
likely pathogenic 4 0 5 1 0
uncertain significance 3 4 0 8 6
likely benign 1 0 8 0 12
benign 1 0 6 12 0

All variants with conflicting interpretations #

Total variants: 32
Download table as spreadsheet
HGVS dbSNP
NM_020247.4(COQ8A):c.-10+8T>C rs145688619
NM_020247.4(COQ8A):c.1053C>T (p.Gly351=) rs55958233
NM_020247.4(COQ8A):c.117G>A (p.Ala39=) rs11549708
NM_020247.4(COQ8A):c.1185C>T (p.Ile395=) rs17849927
NM_020247.4(COQ8A):c.1188C>T (p.Asp396=) rs139133094
NM_020247.4(COQ8A):c.1229G>A (p.Arg410Gln) rs763311061
NM_020247.4(COQ8A):c.1399-13G>A rs73087649
NM_020247.4(COQ8A):c.1440C>T (p.Phe480=) rs12593
NM_020247.4(COQ8A):c.1573-20C>G rs2297416
NM_020247.4(COQ8A):c.1665G>A (p.Met555Ile) rs199874519
NM_020247.4(COQ8A):c.1716T>C (p.Ser572=) rs3738725
NM_020247.4(COQ8A):c.1773T>C (p.Ile591=) rs369502091
NM_020247.4(COQ8A):c.1800C>G (p.Val600=) rs74589348
NM_020247.4(COQ8A):c.1800C>T (p.Val600=) rs74589348
NM_020247.4(COQ8A):c.1809C>T (p.Pro603=) rs774789966
NM_020247.4(COQ8A):c.1844dupG (p.Ser616Leufs) rs764847439
NM_020247.4(COQ8A):c.1914C>T (p.Ser638=) rs56043893
NM_020247.4(COQ8A):c.238C>T (p.His80Tyr) rs76249490
NM_020247.4(COQ8A):c.255T>G (p.His85Gln) rs2297411
NM_020247.4(COQ8A):c.258A>C (p.Ala86=) rs137872711
NM_020247.4(COQ8A):c.291C>T (p.Ser97=) rs111529228
NM_020247.4(COQ8A):c.63G>A (p.Ala21=) rs11549709
NM_020247.4(COQ8A):c.67G>A (p.Val23Met) rs35582308
NM_020247.4(COQ8A):c.697G>A (p.Ala233Thr) rs376462712
NM_020247.4(COQ8A):c.78C>T (p.His26=) rs150541057
NM_020247.4(COQ8A):c.811C>T (p.Arg271Cys) rs145034527
NM_020247.4(COQ8A):c.830T>C (p.Leu277Pro) rs781518112
NM_020247.4(COQ8A):c.895C>T (p.Arg299Trp) rs201908721
NM_020247.4(COQ8A):c.911C>T (p.Ala304Val) rs748118737
NM_020247.4(COQ8A):c.957C>T (p.Asp319=) rs764147237
NM_020247.4(COQ8A):c.993C>T (p.Phe331=) rs41303129
Single allele rs1553281318

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.