List of variants reported as pathogenic for Bardet-Biedl syndrome by Molecular Genetics Laboratory, Institute for Ophthalmic Research

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_152618.3(BBS12):c.1237C>G (p.Leu413Val)	rs758217005	0.00012
NM_001278293.3(ARL6):c.291T>A (p.Ser97Arg)	rs2037381055	0.00001
NM_033028.5(BBS4):c.883C>T (p.Arg295Ter)	rs775710800	0.00001
NM_152618.3(BBS12):c.1504G>T (p.Ala502Ser)	rs142593414	0.00001
NM_001278293.3(ARL6):c.528G>T (p.Trp176Cys)	rs2037751886
NM_024685.4(BBS10):c.1603_1606del (p.Asp535fs)	rs1951757988
NM_024685.4(BBS10):c.578T>C (p.Leu193Ser)	rs1951767864
NM_033028.5(BBS4):c.129T>G (p.Tyr43Ter)	rs2065331681

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