List of variants reported as likely pathogenic for ciliopathy by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_020800.3(IFT80):c.721G>C (p.Gly241Arg)	rs138004478	0.00043
NM_001377.3(DYNC2H1):c.7594C>T (p.Arg2532Trp)	rs1350329646	0.00004
NM_001377.3(DYNC2H1):c.988C>T (p.Arg330Cys)	rs397514637	0.00001
NM_001377.3(DYNC2H1):c.5959A>G (p.Thr1987Ala)	rs137853035
NM_012144.4(DNAI1):c.1019G>A (p.Trp340Ter)
NM_018139.3(DNAAF2):c.1510C>T (p.Gln504Ter)
NM_020800.3(IFT80):c.411dup (p.Met138fs)	rs778324141
NM_145045.5(ODAD3):c.694C>T (p.Gln232Ter)

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