ClinVar Miner

Variants with conflicting interpretations studied for Coenzyme Q10 deficiency, primary

Coded as:
Minimum review status of the submission for Coenzyme Q10 deficiency, primary: Y axis collection method of the submission for Coenzyme Q10 deficiency, primary:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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
76 6 0 8 19 2 1 30

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.

All conditions
Coenzyme Q10 deficiency, primary pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 0 1 1 0 0 2
uncertain significance 1 0 0 8 13 0
likely benign 0 0 0 0 5 0
benign 0 0 0 2 0 0

Condition to condition summary #

Total conditions: 6
Download table as spreadsheet
Condition 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
not specified 0 0 0 7 18 0 0 25
not provided 0 6 0 4 4 0 0 8
Coenzyme Q10 deficiency, primary 1 0 5 0 2 0 0 1 3
Coenzyme Q10 deficiency, primary, 2 0 0 0 0 2 0 0 2
Shy-Drager syndrome 0 0 0 0 0 2 0 2
Coenzyme Q10 deficiency, primary 110 1 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 30
Download table as spreadsheet
HGVS dbSNP
NM_014317.4(PDSS1):c.-29C>T rs537781419
NM_014317.5(PDSS1):c.130-10G>T rs551306397
NM_014317.5(PDSS1):c.162+13A>G rs12571799
NM_014317.5(PDSS1):c.163-5del rs34296355
NM_014317.5(PDSS1):c.243C>T (p.Thr81=) rs762902803
NM_014317.5(PDSS1):c.407T>G (p.Phe136Cys) rs77826284
NM_014317.5(PDSS1):c.426G>A (p.Ala142=) rs149274703
NM_014317.5(PDSS1):c.589A>G (p.Lys197Glu) rs116424900
NM_014317.5(PDSS1):c.89G>T (p.Gly30Val) rs17855857
NM_015697.8(COQ2):c.1159C>T (p.Arg387Ter) rs751185256
NM_015697.8(COQ2):c.196G>T (p.Val66Leu) rs6818847
NM_015697.8(COQ2):c.382A>G (p.Met128Val) rs778094136
NM_015697.8(COQ2):c.590G>A (p.Arg197His) rs121918231
NM_015697.8(COQ2):c.683A>G (p.Asn228Ser) rs121918232
NM_015697.8(COQ2):c.894T>C (p.Asp298=) rs6535454
NM_015697.8(COQ2):c.990C>T (p.Ser330=) rs1129617
NM_020312.3(COQ9):c.73+9delG rs749532852
NM_020312.4(COQ9):c.102G>A (p.Pro34=) rs223864
NM_020312.4(COQ9):c.315G>A (p.Thr105=) rs201238241
NM_020312.4(COQ9):c.625C>G (p.Leu209Val) rs78846023
NM_020312.4(COQ9):c.74-13G>A rs181356497
NM_020312.4(COQ9):c.79C>G (p.Arg27Gly) rs140264612
NM_020312.4(COQ9):c.864G>C (p.Lys288Asn) rs61730662
NM_020312.4(COQ9):c.921+11C>A rs75908124
NM_020312.4(COQ9):c.921+13C>T rs115677652
NM_020381.4(PDSS2):c.*1C>T rs145540533
NM_020381.4(PDSS2):c.1046G>A (p.Arg349Gln) rs201388841
NM_020381.4(PDSS2):c.1149G>A (p.Glu383=) rs139493398
NM_020381.4(PDSS2):c.11G>C (p.Arg4Pro) rs3734676
NM_020381.4(PDSS2):c.7T>C (p.Phe3Leu) rs3734675

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