List of variants in gene combination CEP290, RLIG1 reported as uncertain significance 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: 11

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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.7340A>C (p.Lys2447Thr)	rs201382524	0.00006
NM_025114.4(CEP290):c.7240G>A (p.Glu2414Lys)	rs1233939358	0.00001
NM_025114.4(CEP290):c.7311G>T (p.Lys2437Asn)	rs534440681	0.00001
NM_025114.4(CEP290):c.7333G>A (p.Val2445Ile)	rs756042946	0.00001
NM_025114.4(CEP290):c.7372A>G (p.Ser2458Gly)	rs762238709	0.00001
NM_001009894.3(RLIG1):c.*618TATT[1]	rs886049876
NM_025114.4(CEP290):c.7381GCT[1] (p.Ala2462del)	rs1345322609
NM_025114.4(CEP290):c.7392_7393insCA (p.Glu2465fs)	rs757255407
NM_025114.4(CEP290):c.7397T>C (p.Phe2466Ser)	rs1159836808
NM_025114.4(CEP290):c.7405GAA[2] (p.Glu2471del)	rs777398895

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