ClinVar Miner

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

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Total variants: 25
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HGVS dbSNP
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
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.118del (p.Cys40fs) rs1490351829
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)
Single allele

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