List of variants in gene combination CEP290, RLIG1 reported as uncertain significance for Joubert syndrome 5

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.7276G>A (p.Asp2426Asn)	rs200178519	0.00021
NM_025114.4(CEP290):c.*168A>G	rs376016171	0.00014
NM_025114.4(CEP290):c.7365A>G (p.Glu2455=)	rs765709669	0.00004
NM_025114.4(CEP290):c.*151T>C	rs2033206514	0.00001
NM_025114.4(CEP290):c.7375C>T (p.Pro2459Ser)	rs754398792	0.00001
NM_025114.4(CEP290):c.7394_7395del (p.Glu2465fs)	rs569673313

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