List of variants studied for Jeune syndrome by Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_174905.4(FAM98C):c.844C>T (p.Arg282Ter)	rs201037487	0.00004
NM_001199397.3(NEK1):c.1690_1691del (p.Met564fs)	rs786205645
NM_001377.3(DYNC2H1):c.3331G>A (p.Glu1111Lys)	rs1860716899
NM_001377.3(DYNC2H1):c.3638T>G (p.Leu1213Arg)	rs886039812
NM_014714.4(IFT140):c.3943GCCAAG[2] (p.1315AK[2])	rs746697405
NM_018051.5(DYNC2I1):c.772_775del (p.Glu258fs)	rs1843823774
NM_018051.5(DYNC2I1):c.899G>T (p.Arg300Leu)	rs899172501
NM_024685.4(BBS10):c.959_962del (p.Ser320fs)	rs758522600
NM_147127.5(EVC2):c.2017_2021del (p.Thr673fs)	rs2108843144
NM_152766.5(TMEM256):c.244_265del (p.Phe82fs)	rs886039795
NM_152773.5(DYNLT2B):c.317+4A>T	rs886039815
NM_153717.3(EVC):c.2450-1G>A	rs1715585498
NM_153717.3(EVC):c.922_923del (p.Glu308fs)	rs1729200967

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