List of variants in gene combination CEP290, RLIG1 reported as pathogenic for Joubert syndrome with oculorenal defect

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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: 5

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.7282_7286dup (p.Tyr2429Ter)	rs2136546576
NM_025114.4(CEP290):c.7328_7332del (p.Glu2443fs)	rs747138345
NM_025114.4(CEP290):c.7328_7332dup (p.Val2445fs)	rs747138345
NM_025114.4(CEP290):c.7341del (p.Lys2447fs)	rs281865189
NM_025114.4(CEP290):c.7341dup (p.Leu2448fs)	rs281865189

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