List of variants in gene combination CEP290, RLIG1 reported as likely pathogenic for retinal disorder

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

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.7324G>T (p.Glu2442Ter)	rs1374014119	0.00001
NM_025114.4(CEP290):c.7233dup (p.Glu2412fs)	rs2033254449
NM_025114.4(CEP290):c.7263dup (p.Glu2422Ter)	rs1219184437
NM_025114.4(CEP290):c.7283_7286dup (p.Tyr2429Ter)	rs773642187
NM_025114.4(CEP290):c.7328_7332dup (p.Val2445fs)	rs747138345
NM_025114.4(CEP290):c.7341dup (p.Leu2448fs)	rs281865189

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