List of variants reported as pathogenic for ciliopathy by Knight Diagnostic Laboratories, Oregon Health and Sciences University

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)	rs113624356	0.00212
NM_017950.4(CCDC40):c.248del (p.Ala83fs)	rs397515393	0.00029
NM_015681.6(B9D1):c.341+2T>C	rs143149764	0.00009
NM_017777.4(MKS1):c.1408-34_1408-6del	rs386834043
NM_025114.4(CEP290):c.384_387del (p.Asp128fs)	rs386834157
NM_025114.4(CEP290):c.4028del (p.Lys1343fs)	rs1213286417

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