ClinVar Miner

Variants with conflicting interpretations studied for Bardet-Biedl syndrome 1

Coded as:
Minimum review status of the submission for Bardet-Biedl syndrome 1: Collection method of the submission for Bardet-Biedl syndrome 1:
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 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
298 120 0 36 9 0 9 51

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
Bardet-Biedl syndrome 1 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 20 5 0 0
likely pathogenic 20 0 6 0 0
uncertain significance 5 6 0 8 2
likely benign 0 0 8 0 16
benign 0 0 2 16 0

Condition to condition summary #

Total conditions: 1
Download table as spreadsheet
Condition 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
Bardet-Biedl syndrome 1 298 120 0 36 9 0 9 51

All variants with conflicting interpretations #

Total variants: 51
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys) rs35520756 0.03206
NM_031885.5(BBS2):c.1413A>C (p.Val471=) rs35294865 0.01415
NM_198428.3(BBS9):c.2299-20A>C rs17727583 0.01007
NM_015910.7(WDPCP):c.2063A>G (p.Asn688Ser) rs61734468 0.00905
NM_152618.3(BBS12):c.714T>G (p.Asn238Lys) rs17006082 0.00860
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823 0.00569
NM_176824.3(BBS7):c.1512-7A>T rs115987385 0.00545
NM_024649.5(BBS1):c.1020C>G (p.Ser340=) rs35209408 0.00470
NM_031885.5(BBS2):c.805-20A>G rs41280892 0.00410
NM_198428.3(BBS9):c.1246G>A (p.Val416Met) rs61764067 0.00375
NM_024649.5(BBS1):c.24T>C (p.Asp8=) rs55848325 0.00267
NM_024649.5(BBS1):c.831-5C>T rs56177555 0.00262
NM_031885.5(BBS2):c.1422G>A (p.Ser474=) rs117033008 0.00243
NM_198428.3(BBS9):c.2632+9C>A rs148654647 0.00223
NM_198428.3(BBS9):c.1648A>G (p.Ile550Val) rs150399299 0.00219
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00188
NM_024649.5(BBS1):c.1181G>A (p.Gly394Asp) rs141528309 0.00096
NM_024649.5(BBS1):c.1036G>A (p.Val346Ile) rs201872547 0.00033
NM_024649.5(BBS1):c.1634A>G (p.Asn545Ser) rs148948642 0.00015
NM_024649.5(BBS1):c.981C>T (p.Pro327=) rs142243482 0.00011
NM_015910.7(WDPCP):c.1448G>A (p.Arg483Gln) rs544657165 0.00007
NM_024649.5(BBS1):c.432+13C>T rs759287238 0.00004
NM_024649.5(BBS1):c.1338C>T (p.Thr446=) rs368302072 0.00003
NM_024649.5(BBS1):c.1339G>A (p.Ala447Thr) rs200116631 0.00003
NM_024649.5(BBS1):c.1371C>T (p.Tyr457=) rs781014949 0.00003
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln) rs376894444 0.00003
NM_024649.5(BBS1):c.724-1G>C rs748523268 0.00003
NM_024649.5(BBS1):c.840G>C (p.Lys280Asn) rs780169168 0.00003
NM_024649.5(BBS1):c.1110+329C>T rs571170303 0.00002
NM_024649.5(BBS1):c.1110G>A (p.Pro370=) rs183771956 0.00002
NM_024649.5(BBS1):c.479+2T>G rs1353098253 0.00002
NM_024649.5(BBS1):c.670G>A (p.Glu224Lys) rs193922709 0.00002
NM_024685.4(BBS10):c.164T>C (p.Leu55Pro) rs1460517643 0.00002
NM_024649.5(BBS1):c.1147C>T (p.Arg383Trp) rs143495423 0.00001
NM_024649.5(BBS1):c.1318C>T (p.Arg440Ter) rs1014835928 0.00001
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro) rs121917778 0.00001
NM_024649.5(BBS1):c.1643dup (p.Glu549fs) rs773632109 0.00001
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn) rs200688985 0.00001
NM_024649.5(BBS1):c.951+1G>A rs746875134 0.00001
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter) rs768443448
NM_024649.5(BBS1):c.1340-1G>T rs1555049893
NM_024649.5(BBS1):c.1570_1572del (p.Asn524del) rs863224782
NM_024649.5(BBS1):c.1708C>T (p.Arg570Ter) rs1434577015
NM_024649.5(BBS1):c.1717C>T (p.Gln573Ter) rs1450045618
NM_024649.5(BBS1):c.223_224del (p.Leu75fs) rs1057516451
NM_024649.5(BBS1):c.47+1G>T rs1475257145
NM_024649.5(BBS1):c.480-1G>C rs1057516933
NM_024649.5(BBS1):c.752del (p.Leu251fs) rs2134784600
NM_024649.5(BBS1):c.831-3C>G rs113994179
NM_024649.5(BBS1):c.951+58C>T rs1856346961
NM_024649.5(BBS1):c.981del (p.Ala328fs) rs1057516371

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.