List of variants studied for Jeune syndrome by Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_147127.5(EVC2):c.1470+3A>T	rs370769794	0.00007
NM_001377.3(DYNC2H1):c.11320G>A (p.Gly3774Arg)	rs2135399555
NM_001377.3(DYNC2H1):c.2T>C (p.Met1Thr)	rs2134667452
NM_001377.3(DYNC2H1):c.4429A>T (p.Lys1477Ter)	rs754944912
NM_001377.3(DYNC2H1):c.7972G>C (p.Gly2658Arg)	rs1268066804
NM_014714.4(IFT140):c.1052G>T (p.Trp351Leu)	rs2141840176
NM_052844.4(DYNC2I2):c.1150G>C (p.Ala384Pro)	rs2132138875
NM_147127.5(EVC2):c.3454_3461dup (p.Gln1154fs)	rs1722451930
NM_147127.5(EVC2):c.380T>A (p.Leu127Ter)	rs2151736638
NM_153717.3(EVC):c.2561+1G>A	rs1553894457

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