List of variants studied for ciliopathy by Knight Diagnostic Laboratories, Oregon Health and Sciences University

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)	rs113624356	0.00212
NM_024809.5(TCTN2):c.668C>T (p.Thr223Met)	rs145374149	0.00124
NM_018051.5(DYNC2I1):c.714G>T (p.Glu238Asp)	rs150548113	0.00098
NM_017950.4(CCDC40):c.248del (p.Ala83fs)	rs397515393	0.00029
NM_003114.5(SPAG1):c.897_901del (p.Lys301fs)	rs751845138	0.00009
NM_015681.6(B9D1):c.341+2T>C	rs143149764	0.00009
NM_025114.4(CEP290):c.6645+1G>A	rs201218801	0.00006
NM_001378454.1(ALMS1):c.5142T>G (p.Tyr1714Ter)	rs772136379	0.00001
NM_016169.4(SUFU):c.750C>A (p.His250Gln)	rs1235137905	0.00001
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
NM_025114.4(CEP290):c.4243G>T (p.Glu1415Ter)	rs797044604
NM_025114.4(CEP290):c.6818_6818+1dup	rs1060499781

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