ClinVar Miner

List of variants reported as pathogenic for Bardet-Biedl syndrome by Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre

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Total variants: 10
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HGVS dbSNP
NC_000016.9:g.(56519651_56530879)_(56536720_56539861)del
NM_024649.5(BBS1):c.1424dup (p.Ser476fs) rs886039798
NM_033028.4:r.[118_261del;118_373del]
NM_033028.5(BBS4):c.1226del (p.Ser409fs) rs886039800
NM_033028.5(BBS4):c.172C>T (p.Gln58Ter) rs886039802
NM_198428.3(BBS9):c.2115+1G>A rs886039801
NM_198428.3(BBS9):c.223C>T (p.Arg75Ter) rs775081992
NM_198428.3(BBS9):c.263C>A (p.Ser88Ter) rs749974697
NM_198428.3(BBS9):c.956del (p.Thr319fs) rs886039799
Single allele

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