List of variants reported as likely pathogenic for ciliopathy by SIB Swiss Institute of Bioinformatics

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Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_213607.3(CCDC103):c.461A>C (p.His154Pro)	rs145457535	0.00123
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_025103.4(IFT74):c.535C>G (p.Gln179Glu)	rs150219690	0.00004
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln)	rs121434351	0.00003
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_025103.4(IFT74):c.85C>T (p.Arg29Ter)	rs751583919	0.00001
NM_170784.3(MKKS):c.119C>G (p.Ser40Ter)	rs753338844	0.00001
NM_001102564.3(IFT43):c.520T>C (p.Trp174Arg)	rs1555369050
NM_001258244.2(TMEM218):c.111G>T (p.Arg37Ser)	rs1248550491
NM_001321380.2(PIK3C2A):c.-75-13528T>G	rs1565287817
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_024593.4(CLXN):c.292C>T (p.Arg98Ter)
NM_024593.4(CLXN):c.367G>T (p.Glu123Ter)
NM_025103.4(IFT74):c.853G>T (p.Glu285Ter)	rs1056125920

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