List of variants studied for Jeune syndrome by SIB Swiss Institute of Bioinformatics

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_014055.4(IFT81):c.1534C>T (p.Arg512Ter)	rs200335504	0.00008
NM_014055.4(IFT81):c.87G>C (p.Leu29Phe)	rs751222088	0.00004
NM_015693.4(INTU):c.1499A>C (p.Glu500Ala)	rs1360128571	0.00003
NM_015693.4(INTU):c.826C>T (p.Gln276Ter)	rs373900644	0.00003
NM_020779.4(WDR35):c.932G>T (p.Trp311Leu)	rs200649783	0.00003
NM_001102564.3(IFT43):c.520T>C (p.Trp174Arg)	rs1555369050
NM_014055.4(IFT81):c.1300CTT[1] (p.Leu435del)	rs1555266475
NM_014055.4(IFT81):c.785T>G (p.Leu262Ter)	rs576969206
NM_015693.4(INTU):c.1063G>T (p.Glu355Ter)	rs1037828930
NM_020779.4(WDR35):c.1400G>A (p.Arg467Lys)	rs1558342399
NM_020779.4(WDR35):c.1546C>T (p.Gln516Ter)	rs1050086118

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