List of variants reported as likely benign for Joubert syndrome by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001384732.1(CPLANE1):c.3743G>A (p.Gly1248Asp)	rs72736758	0.02238
NM_001384732.1(CPLANE1):c.8344C>A (p.Pro2782Thr)	rs77014998	0.00719
NM_001174150.2(ARL13B):c.105C>T (p.Thr35=)	rs146396078	0.00691
NM_001384732.1(CPLANE1):c.4134T>C (p.Pro1378=)	rs79935028	0.00635
NM_001384732.1(CPLANE1):c.6957A>G (p.Gln2319=)	rs143147192	0.00633
NM_001384732.1(CPLANE1):c.4698A>G (p.Leu1566=)	rs143312971	0.00478
NM_001044385.3(TMEM237):c.348G>A (p.Ala116=)	rs191125006	0.00163
NM_001384732.1(CPLANE1):c.4517A>G (p.His1506Arg)	rs141911199	0.00088
NM_001384732.1(CPLANE1):c.4986A>C (p.Gln1662His)	rs547409263	0.00034

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