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

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Total variants: 6

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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.8286C>T (p.Asp2762=)	rs114126795	0.00589
NM_001384732.1(CPLANE1):c.1736C>T (p.Ala579Val)	rs191239995	0.00036

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