List of variants reported as uncertain significance for Joubert syndrome 5 by Genome-Nilou Lab

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln)	rs188164241	0.00405
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His)	rs183655276	0.00187
NM_025114.4(CEP290):c.341G>A (p.Arg114His)	rs150296134	0.00073
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met)	rs201988582	0.00054
NM_025114.4(CEP290):c.6116A>G (p.Asp2039Gly)	rs192259143	0.00032
NM_025114.4(CEP290):c.1729C>T (p.Leu577=)	rs201295052	0.00020
NM_025114.4(CEP290):c.4555A>T (p.Ile1519Leu)	rs200817579	0.00016
NM_025114.4(CEP290):c.4754A>G (p.His1585Arg)	rs199826787	0.00006
NM_025114.4(CEP290):c.2423A>G (p.Tyr808Cys)	rs773007151	0.00001
NM_025114.4(CEP290):c.3709C>T (p.Arg1237Cys)	rs768864296	0.00001
NM_025114.4(CEP290):c.4150C>T (p.Arg1384Cys)	rs794727563	0.00001
NM_025114.4(CEP290):c.6193A>G (p.Asn2065Asp)	rs886043119	0.00001
NM_025114.4(CEP290):c.6277G>A (p.Val2093Ile)	rs2034578914
NM_025114.4(CEP290):c.6634G>A (p.Glu2212Lys)	rs2034330893

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