List of variants reported as pathogenic for ciliopathy by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_018076.5(ODAD2):c.1669G>T (p.Glu557Ter)	rs145742175	0.00013
NM_018076.5(ODAD2):c.2219G>A (p.Trp740Ter)	rs201213030	0.00003
NM_018076.5(ODAD2):c.1969C>T (p.Gln657Ter)	rs868755574	0.00001
NM_018076.5(ODAD2):c.2014G>T (p.Glu672Ter)	rs771920114
NM_018076.5(ODAD2):c.2495+1G>A	rs879253744
NM_018076.5(ODAD2):c.2675C>A (p.Ser892Ter)	rs587777049
NM_018076.5(ODAD2):c.2712del (p.Ile905fs)	rs587777048
NM_018076.5(ODAD2):c.2780T>G (p.Leu927Trp)	rs587777047
NM_018076.5(ODAD2):c.382+995_936+335del
NM_133496.5(SLC30A7):c.490_491delinsAG (p.His164Ser)	rs1057519442
NM_182924.4(MICALL2):c.851C>G (p.Pro284Arg)	rs556808514

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