List of variants in gene combination CEP290, RLIG1 reported as pathogenic for Leber congenital amaurosis

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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: 3

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HGVS	dbSNP	gnomAD frequency
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.7341dup (p.Leu2448fs)	rs281865189

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