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

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		ClinVar version:

Total variants: 91

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HGVS	dbSNP	gnomAD frequency
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys)	rs35520756	0.03206
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)	rs113624356	0.00212
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter)	rs121917777	0.00012
NM_017777.4(MKS1):c.1601G>A (p.Arg534Gln)	rs199910690	0.00011
NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys)	rs74315396	0.00011
NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro)	rs138043021	0.00010
NM_031885.5(BBS2):c.823C>T (p.Arg275Ter)	rs121908177	0.00010
NM_176824.3(BBS7):c.968A>G (p.His323Arg)	rs119466001	0.00010
NM_001177701.3(IFT27):c.352+1G>T	rs780659194	0.00009
NM_006642.5(SDCCAG8):c.740+356C>T	rs397515337	0.00006
NM_170784.3(MKKS):c.830T>C (p.Leu277Pro)	rs74315398	0.00006
NM_025103.4(IFT74):c.1685-1G>T	rs200699377	0.00005
NM_024685.4(BBS10):c.273C>G (p.Cys91Trp)	rs148374859	0.00004
NM_144596.4(TTC8):c.489G>A (p.Thr163=)	rs119103286	0.00004
NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp)	rs137853105	0.00003
NM_198428.3(BBS9):c.1792C>T (p.Arg598Ter)	rs137852856	0.00003
NM_001177701.3(IFT27):c.299G>A (p.Cys100Tyr)	rs587777546	0.00001
NM_001195305.3(BBIP1):c.173T>G (p.Leu58Ter)	rs515726134	0.00001
NM_001278293.3(ARL6):c.364C>T (p.Arg122Ter)	rs104893678	0.00001
NM_001278293.3(ARL6):c.506G>C (p.Gly169Ala)	rs104893679	0.00001
NM_001278293.3(ARL6):c.92C>G (p.Thr31Arg)	rs104893680	0.00001
NM_006642.5(SDCCAG8):c.679A>T (p.Lys227Ter)	rs267607031	0.00001
NM_012210.4(TRIM32):c.388C>T (p.Pro130Ser)	rs111033571	0.00001
NM_015662.3(IFT172):c.2155C>T (p.His719Tyr)	rs144645349	0.00001
NM_020347.4(LZTFL1):c.778G>T (p.Glu260Ter)	rs515726136	0.00001
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro)	rs121917778	0.00001
NM_024649.5(BBS1):c.851del (p.Tyr284fs)	rs587777830	0.00001
NM_031885.5(BBS2):c.175C>T (p.Gln59Ter)	rs121908176	0.00001
NM_033028.5(BBS4):c.1091C>A (p.Ala364Glu)	rs28938468	0.00001
NM_144596.4(TTC8):c.624+1G>A	rs587777808	0.00001
NM_152384.3(BBS5):c.214G>A (p.Gly72Ser)	rs121908581	0.00001
NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter)	rs121918327	0.00001
NM_152618.3(BBS12):c.865G>C (p.Ala289Pro)	rs121918328	0.00001
NM_170784.3(MKKS):c.155G>A (p.Gly52Asp)	rs28937875	0.00001
NM_170784.3(MKKS):c.169A>G (p.Thr57Ala)	rs74315399	0.00001
NM_177965.4(CFAP418):c.304A>T (p.Lys102Ter)	rs766087213	0.00001
NM_177965.4(CFAP418):c.529C>T (p.Arg177Trp)	rs387907136	0.00001
NM_198428.3(BBS9):c.442+1G>C	rs587777811	0.00001
BBS2, CYS210FS, TER246
BBS5, 8-BP DEL/7-BP INS, NT263
GRCh38/hg38 9p21.2(chr9:27040565-27060992)
NM_001177701.3(IFT27):c.107A>G (p.Tyr36Cys)	rs1569077441
NM_001278293.3(ARL6):c.509T>G (p.Leu170Trp)	rs104893681
NM_001278293.3(ARL6):c.92C>T (p.Thr31Met)	rs104893680
NM_006642.5(SDCCAG8):c.1444del (p.Thr482fs)	rs587777847
NM_006642.5(SDCCAG8):c.1628_1631del (p.Asp543fs)	rs587777846
NM_014451.3(BBS9):c.(443-1675_443-1116)_(618-986_618-508)del
NM_015662.3(IFT172):c.1478T>G (p.Leu493Arg)	rs1282056614
NM_015662.3(IFT172):c.4428+3A>G	rs2148476381
NM_015662.3(IFT172):c.4701C>A (p.His1567Gln)	rs786205855
NM_015910.7(WDPCP):c.76-1G>T	rs397704728
NM_017777.4(MKS1):c.1112_1114del (p.Phe371del)	rs587777804
NM_017777.4(MKS1):c.1382A>G (p.Tyr461Cys)	rs730882120
NM_020347.4(LZTFL1):c.260T>C (p.Leu87Pro)	rs515726135
NM_020347.4(LZTFL1):c.402_406del (p.Pro136fs)	rs431825171
NM_024649.5(BBS1):c.1642del (p.Leu548fs)	rs1555050404
NM_024649.5(BBS1):c.432+1G>A	rs587777829
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.32T>G (p.Val11Gly)	rs137852838
NM_024685.4(BBS10):c.931T>G (p.Ser311Ala)	rs137852837
NM_025103.4(IFT74):c.371_372del (p.Gln124fs)	rs2131541114
NM_025114.4(CEP290):c.5704G>T (p.Glu1902Ter)	rs267606719
NM_031885.5(BBS2):c.118-1G>C	rs587777825
NM_031885.5(BBS2):c.224T>G (p.Val75Gly)	rs121908174
NM_031885.5(BBS2):c.416G>T (p.Gly139Val)	rs121908181
NM_031885.5(BBS2):c.472-2A>G	rs137854887
NM_031885.5(BBS2):c.940del (p.Ile314fs)	rs587777824
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_144596.4(TTC8):c.1049+2_1049+4del	rs587777807
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.425T>A (p.Leu142Ter)	rs1574339529
NM_152384.3(BBS5):c.522+3A>G	rs587777828
NM_152384.3(BBS5):c.547A>G (p.Thr183Ala)	rs121908582
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_170784.3(MKKS):c.281del (p.Phe94fs)	rs587777827
NM_170784.3(MKKS):c.429_434delinsTT (p.Phe144fs)	rs2122235362
NM_170784.3(MKKS):c.792T>A (p.Tyr264Ter)	rs74315397
NM_176824.3(BBS7):c.1592_1597del (p.Val531_Pro532del)	rs587777836
NM_176824.3(BBS7):c.709_712del (p.Lys237fs)	rs587777812
NM_198428.3(BBS9):c.1063C>T (p.Gln355Ter)	rs137852858
NM_198428.3(BBS9):c.1789+1G>A	rs201938124
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

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