List of variants reported as pathogenic for ciliopathy by Institute of Medical Genetics, University of Zurich

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001384732.1(CPLANE1):c.493del (p.Ile165fs)	rs606231259	0.00007
NM_001384732.1(CPLANE1):c.5733T>G (p.Tyr1911Ter)	rs770770257	0.00003
NM_198525.3(KIF7):c.2593-3C>G	rs774403667	0.00002
NM_001384732.1(CPLANE1):c.2624C>T (p.Ser875Phe)	rs794727154	0.00001
NM_001384732.1(CPLANE1):c.4314del (p.Glu1439fs)	rs1554084360
NM_198525.3(KIF7):c.1643dup (p.Arg549fs)	rs1555424684
NM_198525.3(KIF7):c.2164G>T (p.Glu722Ter)	rs1555424505
NM_198525.3(KIF7):c.3001C>T (p.Gln1001Ter)	rs387907045

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