List of variants reported as pathogenic for Joubert syndrome 17 by Genetic Services Laboratory, University of Chicago

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001384732.1(CPLANE1):c.493del (p.Ile165fs)	rs606231259	0.00007
NM_001384732.1(CPLANE1):c.7400+1G>A	rs367543062	0.00001
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs)	rs777686211
NM_001384732.1(CPLANE1):c.8150_8151del (p.Gly2717fs)	rs730882217

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