ClinVar Miner

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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NM_001278293.3(ARL6):c.291T>A (p.Ser97Arg)
NM_001278293.3(ARL6):c.528G>T (p.Trp176Cys)
NM_024685.4(BBS10):c.1603_1606del (p.Asp535fs)
NM_024685.4(BBS10):c.578T>C (p.Leu193Ser)
NM_033028.5(BBS4):c.129T>G (p.Tyr43Ter)
NM_033028.5(BBS4):c.883C>T (p.Arg295Ter) rs775710800
NM_152618.3(BBS12):c.1237C>G (p.Leu413Val) rs758217005
NM_152618.3(BBS12):c.1504G>T (p.Ala502Ser) rs142593414

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