ClinVar Miner

List of variants reported as benign for Bardet-Biedl syndrome

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 277
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HGVS dbSNP
NM_001165927.1(MKS1):c.*414C>T rs2302313
NM_001165927.1(MKS1):c.*75C>T rs35184412
NM_001165927.1(MKS1):c.1243+11G>A rs16942826
NM_001165927.1(MKS1):c.1406G>A (p.Arg469His) rs111315726
NM_001165927.1(MKS1):c.1641G>C (p.Leu547=) rs11548967
NM_001165927.1(MKS1):c.50+214C>G rs116514023
NM_001165927.1(MKS1):c.828+9A>G rs3826300
NM_001252678.1(BBS4):c.-507C>A rs11637927
NM_001278293.3(ARL6):c.*225G>C rs4857294
NM_001278293.3(ARL6):c.*255C>T rs79196822
NM_001278293.3(ARL6):c.192A>G (p.Ser64=) rs140114162
NM_001278293.3(ARL6):c.480-8C>T rs77010939
NM_001365068.1(ASTN2):c.2806+24861A>G rs2281627
NM_001365068.1(ASTN2):c.2806+25222G>A
NM_001365068.1(ASTN2):c.2806+25478C>T rs16933835
NM_001365068.1(ASTN2):c.2806+25938G>A rs3019
NM_001365068.1(ASTN2):c.2806+26754A>G rs150813870
NM_001365068.1(ASTN2):c.2806+26775C>T rs1661300
NM_001365068.1(ASTN2):c.2806+27259G>C rs3747834
NM_001365068.1(ASTN2):c.2806+28023A>C rs141352486
NM_001365068.1(ASTN2):c.2807-35537C>G rs12342207
NM_006642.5(SDCCAG8):c.-47T>A rs3904682
NM_006642.5(SDCCAG8):c.1094G>C (p.Arg365Thr) rs115098969
NM_006642.5(SDCCAG8):c.1134A>T (p.Glu378Asp) rs2275155
NM_006642.5(SDCCAG8):c.1725G>A (p.Glu575=) rs10927011
NM_006642.5(SDCCAG8):c.1761G>A (p.Leu587=) rs149837444
NM_006642.5(SDCCAG8):c.2067G>A (p.Leu689=) rs191821211
NM_006642.5(SDCCAG8):c.267T>C (p.Ser89=) rs148818431
NM_006642.5(SDCCAG8):c.279G>A (p.Pro93=) rs145877279
NM_006642.5(SDCCAG8):c.348C>T (p.His116=) rs143226730
NM_006642.5(SDCCAG8):c.798T>C (p.His266=) rs74586093
NM_006642.5(SDCCAG8):c.912C>T (p.Thr304=) rs976529
NM_006642.5(SDCCAG8):c.986C>T (p.Thr329Met) rs35859404
NM_015910.7(WDPCP):c.*195G>A rs55807617
NM_015910.7(WDPCP):c.*323A>G rs369149310
NM_015910.7(WDPCP):c.*624_*625del rs139878372
NM_015910.7(WDPCP):c.1315G>A (p.Val439Ile) rs199676595
NM_015910.7(WDPCP):c.1333G>C (p.Ala445Pro) rs61734466
NM_015910.7(WDPCP):c.1448G>A (p.Arg483Gln) rs544657165
NM_015910.7(WDPCP):c.1915+13G>A rs992214
NM_015910.7(WDPCP):c.1916-6C>T rs2421862
NM_015910.7(WDPCP):c.2063A>G (p.Asn688Ser) rs61734468
NM_015910.7(WDPCP):c.385-3del rs559429215
NM_015910.7(WDPCP):c.68C>A (p.Pro23Gln) rs141340867
NM_015910.7(WDPCP):c.76-15T>A rs200557033
NM_015910.7(WDPCP):c.802G>A (p.Gly268Ser) rs17617459
NM_015910.7(WDPCP):c.83A>T (p.Asp28Val) rs144703991
NM_015910.7(WDPCP):c.924A>G (p.Val308=) rs201844706
NM_017777.4(MKS1):c.*472C>G
NM_018848.3(MKKS):c.*38A>G rs79940214
NM_018848.3(MKKS):c.*392T>C rs2294901
NM_018848.3(MKKS):c.*435G>A rs6108549
NM_018848.3(MKKS):c.*46G>T rs74703166
NM_018848.3(MKKS):c.-58T>C rs114068950
NM_018848.3(MKKS):c.-74G>A rs113994194
NM_018848.3(MKKS):c.1015A>G (p.Ile339Val) rs137853909
NM_018848.3(MKKS):c.117C>T (p.Pro39=) rs16991547
NM_018848.3(MKKS):c.1462G>A (p.Ala488Thr) rs61734546
NM_018848.3(MKKS):c.1549C>T (p.Arg517Cys) rs1547
NM_018848.3(MKKS):c.1595G>T (p.Gly532Val) rs1545
NM_018848.3(MKKS):c.16G>A (p.Ala6Thr) rs150920905
NM_018848.3(MKKS):c.416G>A (p.Arg139Gln) rs145045986
NM_018848.3(MKKS):c.534C>T (p.Ile178=) rs17852625
NM_018848.3(MKKS):c.724G>T (p.Ala242Ser) rs74315394
NM_018848.3(MKKS):c.757T>C (p.Ser253Pro) rs201785599
NM_024649.5(BBS1):c.*1215T>C rs115354748
NM_024649.5(BBS1):c.*187C>T
NM_024649.5(BBS1):c.*428G>C rs41302425
NM_024649.5(BBS1):c.*7A>G rs8432
NM_024649.5(BBS1):c.*840A>G rs3741360
NM_024649.5(BBS1):c.*955G>A rs1791686
NM_024649.5(BBS1):c.1020C>G (p.Ser340=) rs35209408
NM_024649.5(BBS1):c.1036G>A (p.Val346Ile) rs201872547
NM_024649.5(BBS1):c.1349G>A (p.Arg450Gln) rs77298332
NM_024649.5(BBS1):c.1413C>T (p.Leu471=) rs3816492
NM_024649.5(BBS1):c.1695+10G>A rs200276861
NM_024649.5(BBS1):c.1719A>G (p.Gln573=) rs150553044
NM_024649.5(BBS1):c.24T>C (p.Asp8=) rs55848325
NM_024649.5(BBS1):c.378G>A (p.Leu126=) rs2298806
NM_024649.5(BBS1):c.433-5C>T rs542052064
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys) rs35520756
NM_024649.5(BBS1):c.724-8G>C rs10896125
NM_024649.5(BBS1):c.831-5C>T rs56177555
NM_024685.4(BBS10):c.*1051C>T rs3087711
NM_024685.4(BBS10):c.*1248A>G rs115516881
NM_024685.4(BBS10):c.*498A>G rs79517322
NM_024685.4(BBS10):c.*632T>C rs78402495
NM_024685.4(BBS10):c.*769G>C rs73383520
NM_024685.4(BBS10):c.*805T>C rs73390067
NM_024685.4(BBS10):c.*87A>C rs138936387
NM_024685.4(BBS10):c.-52C>T rs79580268
NM_024685.4(BBS10):c.1074G>A (p.Ser358=) rs551803123
NM_024685.4(BBS10):c.1245T>C (p.His415=) rs147241753
NM_024685.4(BBS10):c.1265G>A (p.Arg422Gln) rs138961848
NM_024685.4(BBS10):c.1545T>C (p.Asp515=) rs77565309
NM_024685.4(BBS10):c.1616C>T (p.Pro539Leu) rs35676114
NM_024685.4(BBS10):c.1631A>G (p.Asn544Ser) rs34737974
NM_024685.4(BBS10):c.1975A>T (p.Ile659Leu) rs771355732
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn) rs142863601
NM_024685.4(BBS10):c.966T>C (p.Tyr322=) rs139053702
NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu) rs147371999
NM_025114.4(CEP290):c.1624-5T>C rs142742071
NM_025114.4(CEP290):c.1991A>G (p.Asp664Gly) rs79705698
NM_025114.4(CEP290):c.2055T>C (p.Ala685=) rs45465996
NM_025114.4(CEP290):c.251-10A>T rs190383141
NM_025114.4(CEP290):c.2512A>G (p.Lys838Glu) rs11104738
NM_025114.4(CEP290):c.2717T>G (p.Leu906Trp) rs7970228
NM_025114.4(CEP290):c.2827A>G (p.Ile943Val) rs75220808
NM_025114.4(CEP290):c.3465G>A (p.Leu1155=) rs150138016
NM_025114.4(CEP290):c.3574-9del rs10717563
NM_025114.4(CEP290):c.3710G>A (p.Arg1237His) rs7307793
NM_025114.4(CEP290):c.4119A>G (p.Lys1373=) rs117122459
NM_025114.4(CEP290):c.5199A>G (p.Gln1733=) rs79644671
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val) rs11104729
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr) rs117852025
NM_025114.4(CEP290):c.6522+5dup rs11405846
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln) rs45502896
NM_025114.4(CEP290):c.853-12_853-11insG rs71082425
NM_031885.3(BBS2):c.-191G>T rs16964239
NM_031885.3(BBS2):c.-225C>T rs117744577
NM_031885.3(BBS2):c.-242T>C rs12446354
NM_031885.4(BBS2):c.*316A>G rs17341965
NM_031885.4(BBS2):c.-137C>G rs77438708
NM_031885.4(BBS2):c.-40T>C rs115078074
NM_031885.4(BBS2):c.-42T>G rs78076550
NM_031885.4(BBS2):c.1110T>C (p.Ala370=) rs148990271
NM_031885.4(BBS2):c.1134A>G (p.Pro378=) rs185178790
NM_031885.4(BBS2):c.1413A>C (p.Val471=) rs35294865
NM_031885.4(BBS2):c.1422G>A (p.Ser474=) rs117033008
NM_031885.4(BBS2):c.1511C>T (p.Ala504Val) rs16957538
NM_031885.4(BBS2):c.1659+3A>G rs6499838
NM_031885.4(BBS2):c.2079G>A (p.Gln693=) rs150797250
NM_031885.4(BBS2):c.209= (p.Asn70=) rs4784677
NM_031885.4(BBS2):c.209A>G (p.Asn70Ser) rs4784677
NM_031885.4(BBS2):c.266A>G (p.Tyr89Cys) rs560910758
NM_031885.4(BBS2):c.367A>G (p.Ile123Val) rs11373
NM_031885.4(BBS2):c.612+12C>A rs77019529
NM_031885.4(BBS2):c.744T>C (p.His248=) rs186893286
NM_031885.4(BBS2):c.805-20A>G rs41280892
NM_031885.4(BBS2):c.865A>G (p.Ile289Val) rs150384293
NM_033028.5(BBS4):c.*1G>C rs113678046
NM_033028.5(BBS4):c.*608G>T rs12898814
NM_033028.5(BBS4):c.-17C>A rs56368716
NM_033028.5(BBS4):c.-17C>T rs56368716
NM_033028.5(BBS4):c.-6G>A rs367543011
NM_033028.5(BBS4):c.1049A>G (p.Asn350Ser) rs150395094
NM_033028.5(BBS4):c.1061T>C (p.Ile354Thr) rs2277598
NM_033028.5(BBS4):c.1215C>G (p.Leu405=) rs3759869
NM_033028.5(BBS4):c.1223_1225dup (p.Asn408dup) rs752690768
NM_033028.5(BBS4):c.1236A>T (p.Glu412Asp) rs147202164
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg) rs75295839
NM_033028.5(BBS4):c.1414A>G (p.Met472Val) rs2277596
NM_033028.5(BBS4):c.1440G>A (p.Thr480=) rs148682268
NM_033028.5(BBS4):c.1451-45T>C rs75847960
NM_033028.5(BBS4):c.17T>C (p.Val6Ala) rs113994185
NM_033028.5(BBS4):c.180A>G (p.Gln60=) rs114434361
NM_033028.5(BBS4):c.18C>T (p.Val6=) rs113994187
NM_033028.5(BBS4):c.208A>G (p.Ile70Val) rs142692981
NM_033028.5(BBS4):c.20C>T (p.Ala7Val) rs113994186
NM_033028.5(BBS4):c.24+8C>T rs200055760
NM_033028.5(BBS4):c.28dup (p.Thr10fs) rs113994184
NM_033028.5(BBS4):c.37C>T (p.Pro13Ser) rs151164191
NM_033028.5(BBS4):c.42A>G (p.Val14=) rs113994181
NM_033028.5(BBS4):c.748G>A (p.Gly250Arg) rs34620165
NM_033028.5(BBS4):c.76+19G>T rs4777527
NM_033028.5(BBS4):c.77-6G>A rs8033604
NM_033028.5(BBS4):c.8A>C (p.Glu3Ala) rs113994183
NM_033028.5(BBS4):c.906= (p.Phe302=) rs12914333
NM_033028.5(BBS4):c.906T>C (p.Phe302=) rs12914333
NM_033028.5(BBS4):c.91A>G (p.Ile31Val) rs113994182
NM_144596.4(TTC8):c.*238G>A rs1048190
NM_144596.4(TTC8):c.*472A>C rs59300815
NM_144596.4(TTC8):c.*493T>C
NM_144596.4(TTC8):c.1253A>G (p.Gln418Arg) rs142938748
NM_144596.4(TTC8):c.1401G>A (p.Pro467=) rs114064158
NM_144596.4(TTC8):c.1464G>C (p.Ala488=) rs142073418
NM_144596.4(TTC8):c.194A>G (p.Asp65Gly) rs114557412
NM_144596.4(TTC8):c.284A>G (p.Lys95Arg) rs150880478
NM_144596.4(TTC8):c.669G>A (p.Lys223=) rs141304350
NM_152384.3(BBS5):c.108C>T (p.Ser36=) rs16823066
NM_152384.3(BBS5):c.190T>C (p.Leu64=) rs777369461
NM_152384.3(BBS5):c.285C>T (p.Leu95=) rs6752540
NM_152384.3(BBS5):c.39C>G (p.Val13=) rs10188609
NM_152384.3(BBS5):c.501T>A (p.Val167=) rs75690869
NM_152384.3(BBS5):c.584A>G (p.Asp195Gly) rs143191074
NM_152384.3(BBS5):c.620G>A (p.Arg207His) rs35487251
NM_152384.3(BBS5):c.750C>T (p.Ile250=) rs76138485
NM_152384.3(BBS5):c.817-5T>G rs780213701
NM_152618.3(BBS12):c.*248G>A rs4833843
NM_152618.3(BBS12):c.*613T>C rs74451613
NM_152618.3(BBS12):c.*811C>G rs309386
NM_152618.3(BBS12):c.-124G>A rs309358
NM_152618.3(BBS12):c.105A>T (p.Ser35=) rs35159397
NM_152618.3(BBS12):c.1062G>C (p.Val354=) rs34296401
NM_152618.3(BBS12):c.1103G>A (p.Arg368His) rs78457123
NM_152618.3(BBS12):c.1157G>A (p.Arg386Gln) rs309370
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823
NM_152618.3(BBS12):c.1200G>A (p.Val400=) rs309371
NM_152618.3(BBS12):c.1207G>A (p.Val403Met) rs78000298
NM_152618.3(BBS12):c.1209G>A (p.Val403=) rs17006092
NM_152618.3(BBS12):c.1257C>T (p.Ser419=) rs34652786
NM_152618.3(BBS12):c.1286G>C (p.Ser429Thr) rs7665271
NM_152618.3(BBS12):c.1287T>C (p.Ser429=) rs17006094
NM_152618.3(BBS12):c.1380G>C (p.Val460=) rs13135766
NM_152618.3(BBS12):c.1381A>C (p.Asn461His) rs10027479
NM_152618.3(BBS12):c.1398C>T (p.Gly466=) rs2292493
NM_152618.3(BBS12):c.1399G>A (p.Asp467Asn) rs13135778
NM_152618.3(BBS12):c.1410C>T (p.Cys470=) rs13135445
NM_152618.3(BBS12):c.1451G>A (p.Arg484Lys) rs35690634
NM_152618.3(BBS12):c.1847G>A (p.Ser616Asn) rs28507107
NM_152618.3(BBS12):c.1872A>G (p.Gln624=) rs13102440
NM_152618.3(BBS12):c.2014G>A (p.Ala672Thr) rs140895713
NM_152618.3(BBS12):c.355G>A (p.Gly119Ser) rs77731085
NM_152618.3(BBS12):c.378G>T (p.Glu126Asp) rs309369
NM_152618.3(BBS12):c.51A>G (p.Gln17=) rs17006077
NM_152618.3(BBS12):c.714T>G (p.Asn238Lys) rs17006082
NM_170784.2(MKKS):c.-683_-674dup rs16996729
NM_170784.3(MKKS):c.-618C>T
NM_176824.3(BBS7):c.*1202G>A rs3217756
NM_176824.3(BBS7):c.*1286G>A rs1507996
NM_176824.3(BBS7):c.*250T>G rs80171619
NM_176824.3(BBS7):c.*419T>A rs3762840
NM_176824.3(BBS7):c.*690T>C rs3217753
NM_176824.3(BBS7):c.*729del rs3217754
NM_176824.3(BBS7):c.*932T>G rs3217755
NM_176824.3(BBS7):c.-133C>G rs2271176
NM_176824.3(BBS7):c.1311C>T (p.Asn437=) rs199812109
NM_176824.3(BBS7):c.1505A>G (p.His502Arg) rs114718913
NM_176824.3(BBS7):c.1512-7A>T rs115987385
NM_176824.3(BBS7):c.171G>A (p.Val57=) rs144525608
NM_176824.3(BBS7):c.186C>T (p.Pro62=) rs35194418
NM_176824.3(BBS7):c.1890+16G>A rs1507994
NM_176824.3(BBS7):c.1891-12C>A rs2706793
NM_198309.3(TTC8):c.1402-12T>C rs79747892
NM_198309.3(TTC8):c.300-15T>A rs187484893
NM_198309.3(TTC8):c.595-5C>T rs137853922
NM_198428.3(BBS9):c.*103T>C rs1050719
NM_198428.3(BBS9):c.*110C>T rs1050721
NM_198428.3(BBS9):c.*138A>C rs59454255
NM_198428.3(BBS9):c.*371G>A rs79271934
NM_198428.3(BBS9):c.*453C>G rs74748415
NM_198428.3(BBS9):c.*549A>G rs73690947
NM_198428.3(BBS9):c.-12+7T>C rs1468797
NM_198428.3(BBS9):c.-259G>A rs73095326
NM_198428.3(BBS9):c.-407C>G rs3750123
NM_198428.3(BBS9):c.-429G>C rs184271281
NM_198428.3(BBS9):c.1017-6T>C rs61756571
NM_198428.3(BBS9):c.1029A>G (p.Gly343=) rs35195153
NM_198428.3(BBS9):c.1110C>T (p.Asn370=) rs61753524
NM_198428.3(BBS9):c.1245C>T (p.Val415=) rs61764066
NM_198428.3(BBS9):c.1246G>A (p.Val416Met) rs61764067
NM_198428.3(BBS9):c.1275+13G>T rs11981364
NM_198428.3(BBS9):c.1280C>T (p.Ala427Val) rs138072724
NM_198428.3(BBS9):c.1284C>T (p.Thr428=) rs6964382
NM_198428.3(BBS9):c.1329+1606C>T rs6974593
NM_198428.3(BBS9):c.1363G>A (p.Ala455Thr) rs11773504
NM_198428.3(BBS9):c.1432+7T>G rs150963080
NM_198428.3(BBS9):c.1546C>A (p.Pro516Thr) rs73688160
NM_198428.3(BBS9):c.1562G>A (p.Arg521Gln) rs34218557
NM_198428.3(BBS9):c.1606C>T (p.Leu536=) rs576401162
NM_198428.3(BBS9):c.1646C>T (p.Thr549Ile) rs59252892
NM_198428.3(BBS9):c.1648A>G (p.Ile550Val) rs150399299
NM_198428.3(BBS9):c.1694-6T>C rs28622379
NM_198428.3(BBS9):c.1849A>C (p.Ile617Leu) rs34209904
NM_198428.3(BBS9):c.1993C>T (p.Leu665Phe) rs116262072
NM_198428.3(BBS9):c.2086G>A (p.Asp696Asn) rs117543061
NM_198428.3(BBS9):c.2216C>T (p.Ala739Val) rs116483694
NM_198428.3(BBS9):c.2220G>A (p.Leu740=) rs115809567
NM_198428.3(BBS9):c.2299-20A>C rs17727583
NM_198428.3(BBS9):c.2470C>T (p.Arg824Cys) rs146752751
NM_198428.3(BBS9):c.2632+9C>A rs148654647
NM_198428.3(BBS9):c.34A>G (p.Thr12Ala) rs4498440
NM_198428.3(BBS9):c.390T>C (p.Asn130=) rs78283245
NM_198428.3(BBS9):c.531C>A (p.Gly177=) rs113518488
NM_198428.3(BBS9):c.555C>T (p.Ala185=) rs35440033
NM_198428.3(BBS9):c.678A>G (p.Lys226=) rs201231133

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