List of variants studied for Joubert syndrome 17 by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001384732.1(CPLANE1):c.81+20=	rs6876576	0.99994
NM_001384732.1(CPLANE1):c.6098T>G (p.Phe2033Cys)	rs10076911	0.17594
NM_001384732.1(CPLANE1):c.5901-3T>C	rs10805625	0.15103
NM_001384732.1(CPLANE1):c.5381C>T (p.Pro1794Leu)	rs75589774	0.10422
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_001384732.1(CPLANE1):c.6957A>G (p.Gln2319=)	rs143147192	0.00645
NM_001384732.1(CPLANE1):c.4134T>C (p.Pro1378=)	rs79935028	0.00635
NM_001384732.1(CPLANE1):c.8286C>T (p.Asp2762=)	rs114126795	0.00589
NM_001384732.1(CPLANE1):c.4698A>G (p.Leu1566=)	rs143312971	0.00478
NM_001384732.1(CPLANE1):c.4517A>G (p.His1506Arg)	rs141911199	0.00090
NM_001384732.1(CPLANE1):c.1736C>T (p.Ala579Val)	rs191239995	0.00036
NM_001384732.1(CPLANE1):c.4986A>C (p.Gln1662His)	rs547409263

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