ClinVar Miner

Variants in gene COL9A1 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
1113 164 0 33 38 0 2 69

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 4 0 0 0
likely pathogenic 4 0 2 0 0
uncertain significance 0 2 0 37 5
likely benign 0 0 37 0 29
benign 0 0 5 29 0

All variants with conflicting interpretations #

Total variants: 69
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001851.6(COL9A1):c.2299A>G (p.Met767Val) rs6910140 0.04394
NM_001851.6(COL9A1):c.1066-3T>C rs16868869 0.03394
NM_001851.6(COL9A1):c.1666-32G>A rs72923190 0.00751
NM_001851.6(COL9A1):c.1197+11T>C rs73745357 0.00388
NM_001851.6(COL9A1):c.1349A>G (p.Glu450Gly) rs77706858 0.00348
NM_001851.6(COL9A1):c.1395+14T>A rs367801990 0.00323
NM_001851.6(COL9A1):c.1288-4T>A rs142431834 0.00315
NM_001851.6(COL9A1):c.1089+9C>G rs142247988 0.00221
NM_001851.6(COL9A1):c.138G>A (p.Lys46=) rs139361722 0.00214
NM_001851.6(COL9A1):c.299+14A>C rs138522232 0.00214
NM_001851.6(COL9A1):c.904G>A (p.Gly302Ser) rs151129325 0.00207
NM_001851.6(COL9A1):c.1288-9A>G rs181039243 0.00133
NM_001851.6(COL9A1):c.801+11G>C rs200305129 0.00113
NM_001851.6(COL9A1):c.902C>T (p.Pro301Leu) rs192047082 0.00083
NM_001851.6(COL9A1):c.1720-11T>C rs374054294 0.00081
NM_001851.6(COL9A1):c.2585A>C (p.Asp862Ala) rs202176764 0.00079
NM_001851.6(COL9A1):c.2240C>G (p.Pro747Arg) rs149459564 0.00077
NM_001851.6(COL9A1):c.2113-19G>A rs187218937 0.00076
NM_001851.6(COL9A1):c.1053G>A (p.Ser351=) rs75433477 0.00067
NM_001851.6(COL9A1):c.353G>A (p.Arg118Gln) rs143848379 0.00061
NM_001851.6(COL9A1):c.2159G>A (p.Arg720Gln) rs192467838 0.00041
NM_001851.6(COL9A1):c.1130G>A (p.Arg377His) rs142328549 0.00039
NM_001851.6(COL9A1):c.2436G>T (p.Gln812His) rs141830060 0.00039
NM_001851.6(COL9A1):c.452A>T (p.Gln151Leu) rs149389568 0.00033
NM_001851.6(COL9A1):c.333C>T (p.Tyr111=) rs141047907 0.00031
NM_001851.6(COL9A1):c.460G>C (p.Val154Leu) rs138583508 0.00031
NM_001851.6(COL9A1):c.2011G>A (p.Glu671Lys) rs141825151 0.00029
NM_001851.6(COL9A1):c.1569T>A (p.Gly523=) rs150970524 0.00027
NM_001851.6(COL9A1):c.1634G>A (p.Arg545His) rs145698301 0.00025
NM_001851.6(COL9A1):c.795C>G (p.Thr265=) rs149067801 0.00019
NM_001851.6(COL9A1):c.831C>A (p.Pro277=) rs145800598 0.00017
NM_001851.6(COL9A1):c.158A>G (p.Asp53Gly) rs564421091 0.00016
NM_001851.6(COL9A1):c.80G>A (p.Arg27His) rs150026024 0.00016
NM_001851.6(COL9A1):c.876+2T>A rs149830493 0.00013
NM_001851.6(COL9A1):c.1665+5G>T rs369698214 0.00011
NM_001851.6(COL9A1):c.1992T>G (p.Gly664=) rs138810927 0.00011
NM_001851.6(COL9A1):c.462A>G (p.Val154=) rs150571620 0.00010
NM_001851.6(COL9A1):c.344C>T (p.Thr115Met) rs200018557 0.00009
NM_001851.6(COL9A1):c.38T>C (p.Val13Ala) rs140274454 0.00009
NM_001851.6(COL9A1):c.674A>T (p.Asp225Val) rs186444567 0.00009
NM_001851.6(COL9A1):c.15-3C>T rs367798424 0.00007
NM_001851.6(COL9A1):c.1504-19A>C rs377339892 0.00007
NM_001851.6(COL9A1):c.1504-3C>T rs533952787 0.00006
NM_001851.6(COL9A1):c.1666-10T>G rs762825632 0.00006
NM_001851.6(COL9A1):c.635T>C (p.Ile212Thr) rs141776183 0.00006
NM_001851.6(COL9A1):c.1120G>T (p.Glu374Ter) rs374843706 0.00005
NM_001851.6(COL9A1):c.1202C>A (p.Thr401Lys) rs376664058 0.00005
NM_001851.6(COL9A1):c.166+5G>A rs544432669 0.00005
NM_001851.6(COL9A1):c.876+1G>C rs202232444 0.00003
NM_001851.6(COL9A1):c.1411C>T (p.Arg471Ter) rs745532481 0.00001
NM_001851.6(COL9A1):c.1926+6T>G rs372289111 0.00001
NM_001851.6(COL9A1):c.2456C>T (p.Pro819Leu) rs144581626 0.00001
NM_001851.6(COL9A1):c.2562T>C (p.Pro854=) rs1135057 0.00001
NM_001851.6(COL9A1):c.2582-3C>T rs760704462 0.00001
NM_001851.6(COL9A1):c.88+7G>C rs755501266 0.00001
NM_001851.6(COL9A1):c.1287+16C>T
NM_001851.6(COL9A1):c.1342-11_1342-3del rs774856588
NM_001851.6(COL9A1):c.1342-14dup rs537445397
NM_001851.6(COL9A1):c.1342-16dup rs759288929
NM_001851.6(COL9A1):c.1342-27CTTTT[3] rs543377381
NM_001851.6(COL9A1):c.1396-6T>C rs1360782538
NM_001851.6(COL9A1):c.1665+13A>T rs748805630
NM_001851.6(COL9A1):c.2076A>G (p.Glu692=) rs557157592
NM_001851.6(COL9A1):c.2364dup (p.Thr789fs) rs2127557714
NM_001851.6(COL9A1):c.2398C>A (p.Pro800Thr) rs527945609
NM_001851.6(COL9A1):c.468A>T (p.Ser156=)
NM_001851.6(COL9A1):c.559G>A (p.Val187Met) rs773143381
NM_001851.6(COL9A1):c.56C>T (p.Pro19Leu) rs146700420
NM_001851.6(COL9A1):c.902dup (p.Pro306fs) rs771382737

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.