ClinVar Miner

List of variants in gene BBS1 reported as pathogenic for Bardet-Biedl syndrome

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Gene type:
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Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln) rs376894444 0.00003
NM_024649.5(BBS1):c.670G>A (p.Glu224Lys) rs193922709 0.00002
NM_024649.5(BBS1):c.118del (p.Cys40fs) rs1490351829 0.00001
NM_024649.5(BBS1):c.416G>A (p.Trp139Ter) rs878855095 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_024649.5(BBS1):c.48-2A>C rs764245266 0.00001
NM_024649.5(BBS1):c.723+1G>C rs1295318869 0.00001
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_000011.10:g.(?_66529809)_(66532047_?)del
NC_000011.10:g.66515694del
NC_000011.9:g.(66278711_66281876)_(66291354_66293593)del
NC_000011.9:g.(66294279_66297289)_(66301070_?)del
NC_000011.9:g.(?_66278111)_(66299528_?)del
NC_000011.9:g.(?_66278131)_(66283424_?)del
NC_000011.9:g.(?_66278131)_(66291682_?)del
NC_000011.9:g.(?_66283001)_(66287229_?)del
NC_000011.9:g.(?_66283154)_(66287229_?)del
NC_000011.9:g.(?_66287078)_(66291105_?)del
NC_000011.9:g.(?_66288721)_(66293683_?)del
NC_000011.9:g.(?_66290907)_(66299508_?)del
NC_000011.9:g.(?_66290917)_(66291363_?)del
NC_000011.9:g.(?_66291682)_(66293673_?)del
NC_000011.9:g.(?_66293041)_(66297307_?)del
NC_000011.9:g.(?_66293574)_(66294298_?)del
NC_000011.9:g.(?_66293574)_(66299508_?)del
NC_000011.9:g.(?_66297270)_(66299508_?)del
NM_024649.4(BBS1):c.1111-?_1695+?del
NM_024649.4(BBS1):c.592-?_830+?del
NM_024649.4:c.(159+1_160-1)_(1110+1_1111-1)del
NM_024649.4:c.1214_1215ins[MT113356.1:g.1_2409]
NM_024649.4:c.160-?_1110+?del
NM_024649.5(BBS1):c.-3_37del (p.Met1fs) rs113994178
NM_024649.5(BBS1):c.103dup (p.His35fs)
NM_024649.5(BBS1):c.124+1G>C rs1057516449
NM_024649.5(BBS1):c.145del (p.Asp49fs) rs1855937296
NM_024649.5(BBS1):c.158dup (p.Leu54fs) rs1313590454
NM_024649.5(BBS1):c.17dup (p.Ser7fs) rs1166022838
NM_024649.5(BBS1):c.1A>G (p.Met1Val) rs1306821707
NM_024649.5(BBS1):c.1A>T (p.Met1Leu) rs1306821707
NM_024649.5(BBS1):c.217G>T (p.Gly73Ter) rs1012901050
NM_024649.5(BBS1):c.223_224del (p.Leu75fs) rs1057516451
NM_024649.5(BBS1):c.235G>T (p.Glu79Ter) rs138744839
NM_024649.5(BBS1):c.2T>C (p.Met1Thr)
NM_024649.5(BBS1):c.319dup (p.Ala107fs) rs1856010064
NM_024649.5(BBS1):c.331del (p.Cys111fs)
NM_024649.5(BBS1):c.339del (p.Val112_Tyr113insTer)
NM_024649.5(BBS1):c.345dup (p.Lys116Ter) rs1555046611
NM_024649.5(BBS1):c.346_347dup (p.Asn117fs)
NM_024649.5(BBS1):c.356_357insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAATCTCAG (p.Arg119_Pro120insAlaGlyArgGlyGlySerArgLeuTer)
NM_024649.5(BBS1):c.382C>T (p.Gln128Ter) rs2134771570
NM_024649.5(BBS1):c.3G>A (p.Met1Ile)
NM_024649.5(BBS1):c.417G>A (p.Trp139Ter) rs1856011993
NM_024649.5(BBS1):c.421C>T (p.Gln141Ter) rs2134771631
NM_024649.5(BBS1):c.432+1G>A rs587777829
NM_024649.5(BBS1):c.449T>A (p.Leu150Ter)
NM_024649.5(BBS1):c.47+1G>T rs1475257145
NM_024649.5(BBS1):c.48-1G>A rs751753112
NM_024649.5(BBS1):c.48-1G>T rs751753112
NM_024649.5(BBS1):c.48-2A>G
NM_024649.5(BBS1):c.526C>T (p.Gln176Ter)
NM_024649.5(BBS1):c.573dup (p.Asn192fs)
NM_024649.5(BBS1):c.589C>T (p.Gln197Ter) rs777143614
NM_024649.5(BBS1):c.595_598del (p.Val199fs) rs1555047409
NM_024649.5(BBS1):c.607del (p.Thr202_Met203insTer) rs2134780429
NM_024649.5(BBS1):c.667del (p.Thr223fs)
NM_024649.5(BBS1):c.688del (p.Val230fs) rs1856141939
NM_024649.5(BBS1):c.68G>A (p.Trp23Ter) rs778850233
NM_024649.5(BBS1):c.690dup (p.Leu231fs)
NM_024649.5(BBS1):c.71dup (p.Leu24fs) rs1855932012
NM_024649.5(BBS1):c.723+2T>G
Single allele

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