ClinVar Miner

List of variants reported as pathogenic for Bardet-Biedl syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 256
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HGVS dbSNP
GRCh37/hg19 2q13(chr2:110875689-110967529)
NC_000002.12:g.(?_169492874)_(169493836_?)del
NC_000002.12:g.(?_63378386)_(63404657_?)del
NC_000004.12:g.(?_122741883)_(122744035_?)del
NC_000007.13:g.(?_33423258)_(33427776_?)dup
NC_000009.12:g.(?_116618324)_(116805820_?)del
NC_000009.12:g.(?_116697723)_(116699724_?)del
NC_000009.12:g.(?_116697733)_(116699714_?)del
NC_000009.12:g.(?_116697743)_(116699704_?)del
NC_000009.12:g.(?_116697743)_(116820783_?)del
NC_000011.10:g.(?_66510640)_(66523902_?)del
NC_000011.10:g.(?_66510650)_(66511249_?)del
NC_000011.10:g.(?_66510650)_(66524211_?)del
NC_000011.10:g.(?_66519607)_(66521386_?)del
NC_000011.10:g.(?_66523446)_(66524211_?)del
NC_000012.12:g.(?_76345803)_(76348368_?)del
NC_000015.10:g.(?_72686218)_(72686261_?)del
NC_000015.10:g.(?_72709680)_(72712327_?)del
NC_000015.10:g.(?_72715271)_(72716870_?)del
NC_000015.10:g.72708224_72722485del
NC_000016.9:g.(56519651_56530879)_(56536720_56539861)del
NC_000016.9:g.(?_56518653)_(56545216_?)del
NM_001177701.3(IFT27):c.107A>G (p.Tyr36Cys) rs1569077441
NM_001177701.3(IFT27):c.352+1G>T rs780659194
NM_001278293.3(ARL6):c.272T>C (p.Ile91Thr) rs137854907
NM_001278293.3(ARL6):c.291T>A (p.Ser97Arg)
NM_001278293.3(ARL6):c.364C>T (p.Arg122Ter) rs104893678
NM_001278293.3(ARL6):c.528G>T (p.Trp176Cys)
NM_001278293.3(ARL6):c.535G>A (p.Asp179Asn)
NM_001365068.1(ASTN2):c.2806+26456_2806+26462del rs886044106
NM_001365068.1(ASTN2):c.2806+26570C>T rs111033570
NM_001365068.1(ASTN2):c.2806+26922del rs759376012
NM_001365068.1(ASTN2):c.2806+27641G>A rs111033571
NM_006642.5(SDCCAG8):c.1420del (p.Glu474fs) rs397515335
NM_012210.4(TRIM32):c.1370dup (p.Leu457fs)
NM_012210.4(TRIM32):c.458_465del (p.Leu153fs)
NM_012210.4(TRIM32):c.678C>A (p.Tyr226Ter)
NM_012210.4(TRIM32):c.758del (p.Leu253fs)
NM_015910.7(WDPCP):c.1347_1348del (p.Gln451fs)
NM_015910.7(WDPCP):c.1872_1875dup (p.Ala626fs)
NM_018848.3(MKKS):c.1239_1242dup (p.Thr415Ter) rs1306231185
NM_018848.3(MKKS):c.1478del (p.Leu493fs) rs1568662687
NM_018848.3(MKKS):c.295T>C (p.Cys99Arg) rs1297985227
NM_018848.3(MKKS):c.431_441del (p.Phe144fs) rs113994195
NM_018848.3(MKKS):c.492T>A (p.Cys164Ter) rs1568666460
NM_018848.3(MKKS):c.792T>G (p.Tyr264Ter) rs74315397
NM_018848.3(MKKS):c.873_876dup (p.Cys293fs) rs113994196
NM_024649.4(BBS1):c.1111-?_1695+?del
NM_024649.4(BBS1):c.592-?_830+?del
NM_024649.5(BBS1):c.-3_37del (p.Met1fs) rs113994178
NM_024649.5(BBS1):c.1012C>T (p.Gln338Ter) rs869025205
NM_024649.5(BBS1):c.1072del (p.Tyr358fs) rs1057516533
NM_024649.5(BBS1):c.1125C>G (p.Ser375Arg) rs1565287512
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356
NM_024649.5(BBS1):c.1177C>T (p.Arg393Ter) rs1160669210
NM_024649.5(BBS1):c.118del (p.Cys40fs) rs1490351829
NM_024649.5(BBS1):c.1235del (p.Gly412fs)
NM_024649.5(BBS1):c.1240G>T (p.Glu414Ter) rs1060503690
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter) rs768443448
NM_024649.5(BBS1):c.1285dup (p.Arg429fs) rs1565287921
NM_024649.5(BBS1):c.1318C>T (p.Arg440Ter) rs1014835928
NM_024649.5(BBS1):c.1340-2A>G rs113994180
NM_024649.5(BBS1):c.1424dup (p.Ser476fs) rs886039798
NM_024649.5(BBS1):c.1447C>T (p.Arg483Ter) rs745656125
NM_024649.5(BBS1):c.1473+4A>G rs1486200900
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro) rs121917778
NM_024649.5(BBS1):c.1614del (p.Leu539fs)
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter) rs121917777
NM_024649.5(BBS1):c.1694A>G (p.Lys565Arg) rs1565291081
NM_024649.5(BBS1):c.17dup (p.Ser7fs) rs1166022838
NM_024649.5(BBS1):c.217G>T (p.Gly73Ter)
NM_024649.5(BBS1):c.223_224del (p.Leu75fs) rs1057516451
NM_024649.5(BBS1):c.235G>T (p.Glu79Ter)
NM_024649.5(BBS1):c.319dup (p.Ala107fs)
NM_024649.5(BBS1):c.345dup (p.Lys116Ter) rs1555046611
NM_024649.5(BBS1):c.416G>A (p.Trp139Ter) rs878855095
NM_024649.5(BBS1):c.417G>A (p.Trp139Ter)
NM_024649.5(BBS1):c.432+1G>A rs587777829
NM_024649.5(BBS1):c.436C>T (p.Arg146Ter) rs786204444
NM_024649.5(BBS1):c.595_598del (p.Val199fs) rs1555047409
NM_024649.5(BBS1):c.688del (p.Val230fs)
NM_024649.5(BBS1):c.68G>A (p.Trp23Ter)
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys) rs35520756
NM_024649.5(BBS1):c.71dup (p.Leu24fs)
NM_024649.5(BBS1):c.767del (p.Gln256fs) rs1590762360
NM_024649.5(BBS1):c.831-3C>G rs113994179
NM_024649.5(BBS1):c.851del (p.Tyr284fs) rs587777830
NM_024649.5(BBS1):c.871C>T (p.Gln291Ter) rs1057517143
NM_024649.5(BBS1):c.951+1G>A rs746875134
NM_024685.4(BBS10):c.1016T>A (p.Val339Asp)
NM_024685.4(BBS10):c.1044_1045del (p.Pro350fs) rs587777837
NM_024685.4(BBS10):c.1091del (p.Asn364fs) rs727503818
NM_024685.4(BBS10):c.1143T>G (p.Tyr381Ter) rs1340165752
NM_024685.4(BBS10):c.1241T>C (p.Leu414Ser) rs786204575
NM_024685.4(BBS10):c.1391C>G (p.Ser464Ter) rs759682922
NM_024685.4(BBS10):c.1452_1455del (p.Gln484fs) rs1565809597
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp) rs768933093
NM_024685.4(BBS10):c.1495G>T (p.Glu499Ter) rs898539189
NM_024685.4(BBS10):c.1506_1507AT[2] (p.Ile504fs) rs886043841
NM_024685.4(BBS10):c.1514_1520del (p.Pro505fs)
NM_024685.4(BBS10):c.1552C>T (p.Gln518Ter)
NM_024685.4(BBS10):c.1599_1602del (p.Thr534fs) rs770556842
NM_024685.4(BBS10):c.1603_1606del (p.Asp535fs)
NM_024685.4(BBS10):c.1676dup (p.Tyr559Ter) rs1565809478
NM_024685.4(BBS10):c.1677C>A (p.Tyr559Ter) rs375413604
NM_024685.4(BBS10):c.1677del (p.Ser558_Tyr559insTer) rs1555202584
NM_024685.4(BBS10):c.1804G>C (p.Val602Leu)
NM_024685.4(BBS10):c.1949del (p.Gly650fs) rs769028262
NM_024685.4(BBS10):c.1959del (p.Pro655fs) rs1057516628
NM_024685.4(BBS10):c.198G>T (p.Arg66Ser) rs1565810301
NM_024685.4(BBS10):c.2030del (p.Gly677fs) rs1064796315
NM_024685.4(BBS10):c.2052del (p.Lys684fs)
NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer) rs775950661
NM_024685.4(BBS10):c.257_261del (p.Phe86fs) rs1060500996
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_024685.4(BBS10):c.273C>G (p.Cys91Trp) rs148374859
NM_024685.4(BBS10):c.360G>A (p.Trp120Ter)
NM_024685.4(BBS10):c.39_46del (p.Ala14fs) rs1555202806
NM_024685.4(BBS10):c.445dup (p.Leu149fs) rs770053320
NM_024685.4(BBS10):c.473C>A (p.Ser158Ter)
NM_024685.4(BBS10):c.530A>G (p.Tyr177Cys) rs1555202700
NM_024685.4(BBS10):c.531C>A (p.Tyr177Ter) rs863224522
NM_024685.4(BBS10):c.559_561del (p.His187del) rs781421232
NM_024685.4(BBS10):c.578T>C (p.Leu193Ser)
NM_024685.4(BBS10):c.598A>T (p.Lys200Ter)
NM_024685.4(BBS10):c.687del (p.Val230fs) rs761101213
NM_024685.4(BBS10):c.724del (p.Gln242fs) rs1565809995
NM_024685.4(BBS10):c.728_731del (p.Lys243fs) rs786204671
NM_024685.4(BBS10):c.766C>T (p.Arg256Ter) rs1156913215
NM_024685.4(BBS10):c.850C>T (p.Gln284Ter) rs758732081
NM_024685.4(BBS10):c.909_912del (p.Ser303fs) rs780059308
NM_024685.4(BBS10):c.999T>A (p.Cys333Ter) rs1565809867
NM_031885.4(BBS2):c.1015C>T (p.Arg339Ter) rs193922710
NM_031885.4(BBS2):c.1062C>G (p.Asn354Lys) rs1567576202
NM_031885.4(BBS2):c.1237C>T (p.Arg413Ter) rs147030232
NM_031885.4(BBS2):c.1438C>T (p.Arg480Ter) rs778090540
NM_031885.4(BBS2):c.1705C>T (p.Gln569Ter) rs1555521501
NM_031885.4(BBS2):c.175C>T (p.Gln59Ter) rs121908176
NM_031885.4(BBS2):c.1770del (p.Phe590fs) rs193922711
NM_031885.4(BBS2):c.1780C>T (p.Arg594Ter) rs762047808
NM_031885.4(BBS2):c.1814C>G (p.Ser605Ter) rs201063733
NM_031885.4(BBS2):c.1864C>T (p.Arg622Ter) rs201196733
NM_031885.4(BBS2):c.1895G>C (p.Arg632Pro) rs138043021
NM_031885.4(BBS2):c.1909_1910del (p.Met637fs) rs1555521379
NM_031885.4(BBS2):c.224T>G (p.Val75Gly) rs121908174
NM_031885.4(BBS2):c.311A>C (p.Asp104Ala) rs121908179
NM_031885.4(BBS2):c.522T>A (p.Asp174Glu) rs767373822
NM_031885.4(BBS2):c.534+1G>T rs773862084
NM_031885.4(BBS2):c.563del (p.Ile188fs) rs1367927635
NM_031885.4(BBS2):c.565C>T (p.Arg189Ter) rs1273181642
NM_031885.4(BBS2):c.646C>T (p.Arg216Ter) rs121908180
NM_031885.4(BBS2):c.661del (p.Leu221fs) rs770258677
NM_031885.4(BBS2):c.700C>T (p.Arg234Ter) rs779690256
NM_031885.4(BBS2):c.72C>G (p.Tyr24Ter) rs121908175
NM_031885.4(BBS2):c.814C>T (p.Arg272Ter) rs764164384
NM_031885.4(BBS2):c.823C>T (p.Arg275Ter) rs121908177
NM_031885.5(BBS2):c.1486_1489del (p.Ile496fs)
NM_031885.5(BBS2):c.1808_1809del (p.Tyr603fs)
NM_031885.5(BBS2):c.1843dup (p.Ala615fs)
NM_031885.5(BBS2):c.1931dup (p.Tyr644Ter)
NM_031885.5(BBS2):c.1986dup (p.Asn663Ter)
NM_031885.5(BBS2):c.440del (p.Phe147fs)
NM_031885.5(BBS2):c.504del (p.Leu168fs)
NM_031885.5(BBS2):c.774del (p.Asn258fs)
NM_032898.5(CEP19):c.182dup (p.Tyr61Ter) rs1553794304
NM_033028.4(BBS4):c.157-?_220+?del
NM_033028.4:r.[118_261del;118_373del]
NM_033028.5(BBS4):c.1116_1119dup (p.Val374fs)
NM_033028.5(BBS4):c.1126dup (p.Leu376fs)
NM_033028.5(BBS4):c.1226del (p.Ser409fs) rs886039800
NM_033028.5(BBS4):c.129T>G (p.Tyr43Ter)
NM_033028.5(BBS4):c.157-2A>G rs113994192
NM_033028.5(BBS4):c.157-3C>G rs1567412639
NM_033028.5(BBS4):c.172C>T (p.Gln58Ter) rs886039802
NM_033028.5(BBS4):c.220+1G>C rs113994190
NM_033028.5(BBS4):c.341del (p.Leu114fs) rs750258633
NM_033028.5(BBS4):c.406-2A>C rs113994191
NM_033028.5(BBS4):c.513T>A (p.Tyr171Ter) rs367882912
NM_033028.5(BBS4):c.638T>A (p.Leu213Ter) rs1060503692
NM_033028.5(BBS4):c.657del (p.Lys220fs) rs1567427651
NM_033028.5(BBS4):c.712-1G>A rs377031435
NM_033028.5(BBS4):c.76+1G>T rs1465437164
NM_033028.5(BBS4):c.77-216del rs113994189
NM_033028.5(BBS4):c.883C>T (p.Arg295Ter) rs775710800
NM_033028.5(BBS4):c.884G>C (p.Arg295Pro) rs121434632
NM_033028.5(BBS4):c.960T>A (p.Tyr320Ter) rs770891152
NM_144596.3(TTC8):c.1049+2_1049+4del rs587777807
NM_144596.4(TTC8):c.489G>A (p.Thr163=) rs119103286
NM_152384.3(BBS5):c.123del (p.Gly42fs) rs1272140892
NM_152384.3(BBS5):c.143-1G>A
NM_152384.3(BBS5):c.166A>G (p.Arg56Gly) rs1559121920
NM_152384.3(BBS5):c.214G>A (p.Gly72Ser) rs121908581
NM_152384.3(BBS5):c.265C>T (p.Arg89Ter) rs772757329
NM_152384.3(BBS5):c.303dup (p.Asn102Ter)
NM_152384.3(BBS5):c.413G>A (p.Arg138His) rs179363897
NM_152384.3(BBS5):c.567G>A (p.Trp189Ter)
NM_152384.3(BBS5):c.619-1G>C rs753234582
NM_152618.3(BBS12):c.1009_1010del (p.Val337fs) rs1553941369
NM_152618.3(BBS12):c.104C>A (p.Ser35Ter) rs1381368546
NM_152618.3(BBS12):c.1055A>C (p.Gln352Pro) rs767068756
NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter) rs121918327
NM_152618.3(BBS12):c.1082del (p.Gly361fs) rs1057517193
NM_152618.3(BBS12):c.1083delinsGGGTG (p.Asp362fs)
NM_152618.3(BBS12):c.1092del (p.Glu365fs) rs770218590
NM_152618.3(BBS12):c.1115_1116del (p.Gly371_Phe372insTer) rs587777803
NM_152618.3(BBS12):c.1151del (p.Ser384fs) rs1553941404
NM_152618.3(BBS12):c.1237C>G (p.Leu413Val) rs758217005
NM_152618.3(BBS12):c.1267del (p.Ile423fs) rs1578491135
NM_152618.3(BBS12):c.1320_1326dup (p.Gln443fs) rs1553941433
NM_152618.3(BBS12):c.1375C>T (p.Gln459Ter) rs1269565757
NM_152618.3(BBS12):c.1502C>T (p.Thr501Met) rs138011813
NM_152618.3(BBS12):c.1504G>T (p.Ala502Ser) rs142593414
NM_152618.3(BBS12):c.1574G>A (p.Arg525His) rs776730549
NM_152618.3(BBS12):c.1577dup (p.Leu526fs)
NM_152618.3(BBS12):c.1891_1892TC[1] (p.Pro632fs)
NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter) rs752202089
NM_152618.3(BBS12):c.265_266del (p.Leu89fs) rs1397714772
NM_152618.3(BBS12):c.323C>G (p.Pro108Arg) rs151344630
NM_152618.3(BBS12):c.422dup (p.Met141fs)
NM_152618.3(BBS12):c.424dup (p.Asp142fs) rs1553941258
NM_152618.3(BBS12):c.65T>C (p.Phe22Ser) rs565073445
NM_152618.3(BBS12):c.670dup (p.Thr224fs) rs1339432710
NM_152618.3(BBS12):c.682_683insT (p.Gln228fs) rs770872200
NM_152618.3(BBS12):c.898C>T (p.Gln300Ter)
NM_152618.3(BBS12):c.925_926del (p.Met309fs)
NM_176824.3(BBS7):c.1060_1061TA[1] (p.Tyr354_Lys355delinsTer) rs773139166
NM_176824.3(BBS7):c.1413T>A (p.Tyr471Ter) rs991365297
NM_176824.3(BBS7):c.1654dup (p.Thr552fs)
NM_176824.3(BBS7):c.1657C>T (p.Gln553Ter)
NM_176824.3(BBS7):c.1986_1988delinsT (p.Lys662fs) rs863224529
NM_176824.3(BBS7):c.389_390del (p.Asn130fs) rs863224530
NM_176824.3(BBS7):c.529-1dup
NM_176824.3(BBS7):c.542_543insAA (p.Met181fs) rs1553933472
NM_176824.3(BBS7):c.632C>T (p.Thr211Ile) rs119466002
NM_176824.3(BBS7):c.710_711AG[1] (p.Arg238fs) rs760165634
NM_176824.3(BBS7):c.763A>T (p.Lys255Ter) rs1560658189
NM_176824.3(BBS7):c.838C>T (p.Arg280Ter)
NM_176824.3(BBS7):c.85_86CA[1] (p.His29fs) rs1578577361
NM_198428.2(BBS9):c.(?_-1)_328+?del
NM_198428.3(BBS9):c.1063C>T (p.Gln355Ter) rs137852858
NM_198428.3(BBS9):c.113-2A>G rs1562686929
NM_198428.3(BBS9):c.1370T>A (p.Leu457Ter) rs762511626
NM_198428.3(BBS9):c.1423G>T (p.Glu475Ter) rs863224534
NM_198428.3(BBS9):c.1792C>T (p.Arg598Ter) rs137852856
NM_198428.3(BBS9):c.1812del (p.Glu604fs) rs1229015450
NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs) rs606231137
NM_198428.3(BBS9):c.2115+1G>A rs886039801
NM_198428.3(BBS9):c.223C>T (p.Arg75Ter) rs775081992
NM_198428.3(BBS9):c.263+1G>A rs137962929
NM_198428.3(BBS9):c.263+4A>G rs370916293
NM_198428.3(BBS9):c.263C>A (p.Ser88Ter) rs749974697
NM_198428.3(BBS9):c.310del (p.Cys104fs) rs747388658
NM_198428.3(BBS9):c.727G>A (p.Glu243Lys) rs1562917450
NM_198428.3(BBS9):c.832C>T (p.Arg278Ter)
NM_198428.3(BBS9):c.956del (p.Thr319fs) rs886039799
Single allele

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