List of variants studied for Jeune syndrome by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_147127.5(EVC2):c.3121C>T (p.Gln1041Ter)	rs376133710	0.00002
NM_147127.5(EVC2):c.3660del (p.Ser1220fs)	rs753581033	0.00002
NM_001377.3(DYNC2H1):c.1759C>T (p.Arg587Cys)	rs137853030	0.00001
NM_020800.3(IFT80):c.401C>G (p.Ser134Ter)	rs1241223548	0.00001
NM_153717.3(EVC):c.1777-1G>A	rs1262933856	0.00001
NM_153717.3(EVC):c.1868T>C (p.Leu623Pro)	rs1373632260	0.00001
NM_153717.3(EVC):c.617G>A (p.Ser206Asn)	rs1017946059	0.00001
NM_001377.3(DYNC2H1):c.12462G>A (p.Trp4154Ter)
NM_001377.3(DYNC2H1):c.2702+1G>A	rs864622358
NM_001377.3(DYNC2H1):c.8310T>G (p.Tyr2770Ter)	rs1437320571
NM_014055.4(IFT81):c.1066G>T (p.Glu356Ter)
NM_052844.4(DYNC2I2):c.1312_1313del (p.Leu438fs)	rs753802842
NM_147127.5(EVC2):c.194_198dup (p.Ser67fs)	rs992326794
NM_153717.3(EVC):c.922_923del (p.Glu308fs)	rs1729200967

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