List of variants reported as pathogenic for Bardet-Biedl syndrome by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_198428.3(BBS9):c.223C>T (p.Arg75Ter)	rs775081992	0.00002
NC_000011.10:g.66526690_66533668del
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.263C>A (p.Ser88Ter)	rs749974697
NM_198428.3(BBS9):c.956del (p.Thr319fs)	rs886039799

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