List of variants reported as likely pathogenic for Joubert syndrome by Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_001134831.2(AHI1):c.2037-1G>C	rs1784918128
NM_001384732.1(CPLANE1):c.994_996del (p.Met332del)	rs1797611349
NM_002601.4(PDE6D):c.257del (p.Cys86fs)	rs2048717087
NM_015202.5(KATNIP):c.1672C>T (p.Arg558Ter)	rs757493420
NM_015202.5(KATNIP):c.2674C>T (p.Gln892Ter)	rs864309712
NM_153704.6(TMEM67):c.406G>C (p.Val136Leu)	rs1812685381
NM_173348.2(FAM149B1):c.356_357del (p.Lys119fs)	rs1589150410

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