List of variants reported as pathogenic for Jeune syndrome by Molecular Biology Laboratory, Fundació Puigvert

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_014714.4(IFT140):c.975G>T (p.Glu325Asp)	rs1330112951	0.00001
NM_001377.3(DYNC2H1):c.5971A>T (p.Met1991Leu)	rs137853025
NM_014714.4(IFT140):c.2656C>T (p.Gln886Ter)	rs1567330535
NM_014714.4:c.(?_-1)_(*1_?)del

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