List of variants in gene CEP290, RLIG1 studied for Inborn genetic diseases

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.7276G>A (p.Asp2426Asn)	rs200178519	0.00019
NM_025114.4(CEP290):c.7340A>C (p.Lys2447Thr)	rs201382524	0.00006
NM_025114.4(CEP290):c.7397T>A (p.Phe2466Tyr)	rs1159836808	0.00003
NM_025114.4(CEP290):c.7411G>A (p.Glu2471Lys)	rs1406377321	0.00001
NM_025114.4(CEP290):c.7285T>C (p.Tyr2429His)
NM_025114.4(CEP290):c.7290T>A (p.Asn2430Lys)
NM_025114.4(CEP290):c.7328_7332dup (p.Val2445fs)	rs747138345
NM_025114.4(CEP290):c.7394A>C (p.Glu2465Ala)

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