List of variants reported as pathogenic for Joubert syndrome by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_017777.4(MKS1):c.370C>T (p.Arg124Ter)	rs990955357	0.00001
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs)	rs777686211
NM_001384732.1(CPLANE1):c.8425dup (p.Thr2809fs)	rs775263897

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