ClinVar Miner

List of variants reported as pathogenic for Bardet-Biedl syndrome by OMIM

Included ClinVar conditions (37):
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Minimum conflict level:
ClinVar version:
Total variants: 86
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HGVS dbSNP
BBS1, 1-BP DEL, 1650C
BBS2, CYS210FS, TER246
BBS5, 8-BP DEL/7-BP INS, NT263
GRCh38/hg38 9p21.2(chr9:27040565-27060992)
MKKS, 2-BP DEL, 429CT AND 2-BP DEL, 433AG
NM_001165927.1(MKS1):c.1082_1084del (p.Phe361del) rs587777804
NM_001165927.1(MKS1):c.1352A>G (p.Tyr451Cys) rs730882120
NM_001165927.1(MKS1):c.1446T>G (p.Cys482Trp) rs137853105
NM_001165927.1(MKS1):c.1571G>A (p.Arg524Gln) rs199910690
NM_001166114.2(PNPLA6):c.3058_3061dup (p.Arg1021fs) rs606231167
NM_001177701.3(IFT27):c.299G>A (p.Cys100Tyr) rs587777546
NM_001195306.1(BBIP1):c.173T>G (p.Leu58Ter) rs515726134
NM_001278293.3(ARL6):c.364C>T (p.Arg122Ter) rs104893678
NM_001278293.3(ARL6):c.506G>C (p.Gly169Ala) rs104893679
NM_001278293.3(ARL6):c.509T>G (p.Leu170Trp) rs104893681
NM_001278293.3(ARL6):c.92C>G (p.Thr31Arg) rs104893680
NM_001278293.3(ARL6):c.92C>T (p.Thr31Met) rs104893680
NM_001365068.1(ASTN2):c.2806+27641G>A rs111033571
NM_006642.5(SDCCAG8):c.1444del (p.Thr482fs) rs587777847
NM_006642.5(SDCCAG8):c.1628_1631del (p.Asp543fs) rs587777846
NM_006642.5(SDCCAG8):c.679A>T (p.Lys227Ter) rs267607031
NM_006642.5(SDCCAG8):c.740+356C>T rs397515337
NM_014451.3(BBS9):c.(443-1675_443-1116)_(618-986_618-508)del
NM_015910.7(WDPCP):c.76-1G>T rs397704728
NM_018848.3(MKKS):c.110A>G (p.Tyr37Cys) rs74315396
NM_018848.3(MKKS):c.155G>A (p.Gly52Asp) rs28937875
NM_018848.3(MKKS):c.169A>G (p.Thr57Ala) rs74315399
NM_018848.3(MKKS):c.281del (p.Phe94fs) rs587777827
NM_018848.3(MKKS):c.792T>A (p.Tyr264Ter) rs74315397
NM_018848.3(MKKS):c.830T>C (p.Leu277Pro) rs74315398
NM_020347.4(LZTFL1):c.260T>C (p.Leu87Pro) rs515726135
NM_020347.4(LZTFL1):c.402_406del (p.Pro136fs) rs431825171
NM_020347.4(LZTFL1):c.778G>T (p.Glu260Ter) rs515726136
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro) rs121917778
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter) rs121917777
NM_024649.5(BBS1):c.432+1G>A rs587777829
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys) rs35520756
NM_024649.5(BBS1):c.851del (p.Tyr284fs) rs587777830
NM_024685.4(BBS10):c.101G>C (p.Arg34Pro) rs137852836
NM_024685.4(BBS10):c.1044_1045del (p.Pro350fs) rs587777837
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_024685.4(BBS10):c.273C>G (p.Cys91Trp) rs148374859
NM_024685.4(BBS10):c.32T>G (p.Val11Gly) rs137852838
NM_024685.4(BBS10):c.931T>G (p.Ser311Ala) rs137852837
NM_025103.4(IFT74):c.1685-1G>T rs200699377
NM_025114.4(CEP290):c.5704G>T (p.Glu1902Ter) rs267606719
NM_031885.4(BBS2):c.118-1G>C rs587777825
NM_031885.4(BBS2):c.175C>T (p.Gln59Ter) rs121908176
NM_031885.4(BBS2):c.1895G>C (p.Arg632Pro) rs138043021
NM_031885.4(BBS2):c.224T>G (p.Val75Gly) rs121908174
NM_031885.4(BBS2):c.416G>T (p.Gly139Val) rs121908181
NM_031885.4(BBS2):c.472-2A>G rs137854887
NM_031885.4(BBS2):c.823C>T (p.Arg275Ter) rs121908177
NM_031885.4(BBS2):c.940del (p.Ile314fs) rs587777824
NM_033028.5(BBS4):c.1091C>A (p.Ala364Glu) rs28938468
NM_033028.5(BBS4):c.157-2A>G rs113994192
NM_033028.5(BBS4):c.77-216del rs113994189
NM_033028.5(BBS4):c.884G>C (p.Arg295Pro) rs121434632
NM_144596.3(TTC8):c.1049+2_1049+4del rs587777807
NM_144596.3(TTC8):c.624+1G>A rs587777808
NM_144596.4(TTC8):c.489G>A (p.Thr163=) rs119103286
NM_144596.4(TTC8):c.589_594del (p.Glu197_Tyr198del) rs587777806
NM_152384.3(BBS5):c.177G>A (p.Trp59Ter) rs767221160
NM_152384.3(BBS5):c.214G>A (p.Gly72Ser) rs121908581
NM_152384.3(BBS5):c.425T>A (p.Leu142Ter)
NM_152384.3(BBS5):c.522+3A>G rs587777828
NM_152384.3(BBS5):c.547A>G (p.Thr183Ala) rs121908582
NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter) rs121918327
NM_152618.3(BBS12):c.1115_1116del (p.Gly371_Phe372insTer) rs587777803
NM_152618.3(BBS12):c.1483_1484del (p.Glu495fs) rs587777802
NM_152618.3(BBS12):c.337_339del (p.Val113del) rs587777801
NM_152618.3(BBS12):c.865G>C (p.Ala289Pro) rs121918328
NM_176824.3(BBS7):c.1592_1597del (p.Val531_Pro532del) rs587777836
NM_176824.3(BBS7):c.709_712del (p.Lys237fs) rs587777812
NM_176824.3(BBS7):c.968A>G (p.His323Arg) rs119466001
NM_177965.4(C8orf37):c.304A>T (p.Lys102Ter) rs766087213
NM_177965.4(C8orf37):c.529C>T (p.Arg177Trp) rs387907136
NM_198428.3(BBS9):c.1063C>T (p.Gln355Ter) rs137852858
NM_198428.3(BBS9):c.1789+1G>A rs201938124
NM_198428.3(BBS9):c.1792C>T (p.Arg598Ter) rs137852856
NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs) rs606231137
NM_198428.3(BBS9):c.2045dup (p.Arg683fs) rs587777810
NM_198428.3(BBS9):c.421G>A (p.Gly141Arg) rs137852857
NM_198428.3(BBS9):c.442+1G>C rs587777811
PNPLA6, GLY776ARG

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