ClinVar Miner

Variants with conflicting interpretations studied for Bardet-Biedl syndrome

Coded as:
Minimum review status of the submission for Bardet-Biedl syndrome: Collection method of the submission for Bardet-Biedl syndrome:
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
6873 75 3 46 6 0 14 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.

All conditions
Bardet-Biedl syndrome pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 3 43 6 0 1
likely pathogenic 43 0 6 0 1
uncertain significance 6 6 0 3 3
likely benign 0 0 3 0 3
benign 1 1 3 3 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 6873 75 3 46 6 0 14 69

All variants with conflicting interpretations #

Total variants: 69
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024685.4(BBS10):c.1616C>T (p.Pro539Leu) rs35676114 0.05430
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys) rs35520756 0.03206
NM_152618.3(BBS12):c.355G>A (p.Gly119Ser) rs77731085 0.00439
NM_144596.4(TTC8):c.284A>G (p.Lys95Arg) rs150880478 0.00272
NM_024685.4(BBS10):c.1245T>C (p.His415=) rs147241753 0.00130
NM_015910.7(WDPCP):c.83A>T (p.Asp28Val) rs144703991 0.00039
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter) rs121917777 0.00012
NM_152618.3(BBS12):c.1237C>G (p.Leu413Val) rs758217005 0.00012
NM_033028.5(BBS4):c.1440dup (p.Leu481fs) rs780269741 0.00006
NM_024685.4(BBS10):c.42G>A (p.Ala14=) rs373458861 0.00005
NM_152618.3(BBS12):c.1055A>C (p.Gln352Pro) rs767068756 0.00005
NM_176824.3(BBS7):c.187G>A (p.Gly63Arg) rs754579374 0.00004
NM_033028.5(BBS4):c.712-1G>A rs377031435 0.00003
NM_012210.4(TRIM32):c.370C>T (p.Arg124Trp) rs572052810 0.00002
NM_024649.5(BBS1):c.1110+329C>T rs571170303 0.00002
NM_024685.4(BBS10):c.1838A>G (p.Tyr613Cys) rs575957641 0.00002
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro) rs121917778 0.00001
NM_024649.5(BBS1):c.436C>T (p.Arg146Ter) rs786204444 0.00001
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn) rs200688985 0.00001
NM_024685.4(BBS10):c.1184dup (p.His395fs) rs786204573 0.00001
NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter) rs567573386 0.00001
NM_031885.5(BBS2):c.522T>A (p.Asp174Glu) rs767373822 0.00001
NM_033028.5(BBS4):c.1A>G (p.Met1Val) rs773109542 0.00001
NM_033028.5(BBS4):c.42A>G (p.Val14=) rs113994181 0.00001
NM_152618.3(BBS12):c.1276T>C (p.Cys426Arg) rs771456483 0.00001
NM_152618.3(BBS12):c.1504G>T (p.Ala502Ser) rs142593414 0.00001
NM_152618.3(BBS12):c.1574G>A (p.Arg525His) rs776730549 0.00001
NM_152618.3(BBS12):c.65T>C (p.Phe22Ser) rs565073445 0.00001
NM_170784.3(MKKS):c.748G>A (p.Gly250Arg) rs768929313 0.00001
NM_176824.3(BBS7):c.878A>C (p.Gln293Pro) rs889417696 0.00001
NM_024649.5(BBS1):c.-3_37del (p.Met1fs) rs113994178
NM_024649.5(BBS1):c.1097T>A (p.Val366Asp)
NM_024649.5(BBS1):c.1110+3G>C rs762276925
NM_024649.5(BBS1):c.1125C>G (p.Ser375Arg) rs1565287512
NM_024649.5(BBS1):c.1131_1135del (p.Cys377fs) rs786204701
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter) rs768443448
NM_024649.5(BBS1):c.1340-2A>G rs113994180
NM_024649.5(BBS1):c.1570_1572del (p.Asn524del) rs863224782
NM_024649.5(BBS1):c.432+1G>A rs587777829
NM_024649.5(BBS1):c.831-3C>G rs113994179
NM_024685.4(BBS10):c.1184A>G (p.His395Arg) rs1368733646
NM_024685.4(BBS10):c.1189A>G (p.Ile397Val)
NM_024685.4(BBS10):c.1249G>A (p.Ala417Thr)
NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer) rs775950661
NM_024685.4(BBS10):c.2122_2123del (p.Lys708fs) rs1951753208
NM_024685.4(BBS10):c.235dup (p.Thr79fs) rs760693838
NM_024685.4(BBS10):c.310_311del (p.Glu104fs) rs2136091244
NM_024685.4(BBS10):c.473C>A (p.Ser158Ter) rs553291328
NM_024685.4(BBS10):c.531C>A (p.Tyr177Ter) rs863224522
NM_024685.4(BBS10):c.646dup (p.Asp216fs) rs1555202695
NM_031885.5(BBS2):c.1062C>G (p.Asn354Lys) rs1567576202
NM_031885.5(BBS2):c.118-16_118-13del rs758674101
NM_031885.5(BBS2):c.1206dup (p.Arg403fs) rs1964267396
NM_031885.5(BBS2):c.1371del (p.Lys458fs) rs2144143132
NM_031885.5(BBS2):c.1770del (p.Phe590fs) rs193922711
NM_031885.5(BBS2):c.1909_1910del (p.Met637fs) rs1555521379
NM_031885.5(BBS2):c.402del (p.Ala136fs) rs1368647604
NM_031885.5(BBS2):c.627_628del (p.Cys210fs) rs773417074
NM_033028.5(BBS4):c.1248+2T>C rs2151055229
NM_033028.5(BBS4):c.1451-6dup rs770389663
NM_033028.5(BBS4):c.157-2A>G rs113994192
NM_033028.5(BBS4):c.220+1G>C rs113994190
NM_144596.4(TTC8):c.559C>T (p.Gln187Ter) rs376035653
NM_152618.3(BBS12):c.1291C>T (p.Arg431Trp) rs756955366
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del) rs752762669
NM_152618.3(BBS12):c.265_266del (p.Leu89fs) rs1397714772
NM_198428.3(BBS9):c.1277_1280del rs2128646927
NM_198428.3(BBS9):c.2115+1G>A rs886039801
NM_198428.3(BBS9):c.263+4A>G rs370916293

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