ClinVar Miner

Variants in gene COL9A1 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 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
201 45 0 11 7 0 2 20

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 1 0 0 0
likely pathogenic 1 0 2 0 0
uncertain significance 0 2 0 6 1
likely benign 0 0 6 0 10
benign 0 0 1 10 0

All variants with conflicting interpretations #

Total variants: 20
Download table as spreadsheet
HGVS dbSNP
NM_001851.5(COL9A1):c.1053G>A (p.Ser351=) rs75433477
NM_001851.5(COL9A1):c.1197+11T>C rs73745357
NM_001851.5(COL9A1):c.1288-4T>A rs142431834
NM_001851.5(COL9A1):c.1288-9A>G rs181039243
NM_001851.5(COL9A1):c.1349A>G (p.Glu450Gly) rs77706858
NM_001851.5(COL9A1):c.138G>A (p.Lys46=) rs139361722
NM_001851.5(COL9A1):c.1411C>T (p.Arg471Ter) rs745532481
NM_001851.5(COL9A1):c.15-3C>T rs367798424
NM_001851.5(COL9A1):c.1569T>A (p.Gly523=) rs150970524
NM_001851.5(COL9A1):c.1665+5G>T rs369698214
NM_001851.5(COL9A1):c.1666-32G>A rs72923190
NM_001851.5(COL9A1):c.2562T>C (p.Pro854=) rs1135057
NM_001851.5(COL9A1):c.2585A>C (p.Asp862Ala) rs202176764
NM_001851.5(COL9A1):c.353G>A (p.Arg118Gln) rs143848379
NM_001851.5(COL9A1):c.56C>T (p.Pro19Leu) rs146700420
NM_001851.5(COL9A1):c.876+1G>C rs202232444
NM_001851.5(COL9A1):c.876+2T>A rs149830493
NM_001851.5(COL9A1):c.876+6T>C rs73473595
NM_001851.5(COL9A1):c.902C>T (p.Pro301Leu) rs192047082
NM_001851.5(COL9A1):c.904G>A (p.Gly302Ser) rs151129325

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