List of variants in gene combination CEP290, RLIG1 reported as likely benign for autosomal recessive disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.7365A>G (p.Glu2455=)	rs765709669	0.00004
NM_001009894.3(RLIG1):c.*997T>A	rs2033257006	0.00001
NM_025114.4(CEP290):c.7293C>T (p.Tyr2431=)	rs1397480003	0.00001
NM_025114.4(CEP290):c.7314T>C (p.Asn2438=)	rs1555193066	0.00001
NM_025114.4(CEP290):c.7341A>G (p.Lys2447=)	rs1415533078	0.00001
NM_001009894.3(RLIG1):c.1006_1008dup
NM_001009894.3(RLIG1):c.1008_1013del	rs753383814
NM_001009894.3(RLIG1):c.743_746del	rs142288119
NM_025114.4(CEP290):c.7212G>A (p.Glu2404=)	rs1592705118
NM_025114.4(CEP290):c.7233A>G (p.Lys2411=)
NM_025114.4(CEP290):c.7239G>C (p.Leu2413=)	rs2136547545
NM_025114.4(CEP290):c.7251T>C (p.Asp2417=)	rs2136547270
NM_025114.4(CEP290):c.7257A>C (p.Ser2419=)
NM_025114.4(CEP290):c.7275A>G (p.Glu2425=)	rs2136546932
NM_025114.4(CEP290):c.7284G>A (p.Lys2428=)
NM_025114.4(CEP290):c.7305G>C (p.Val2435=)
NM_025114.4(CEP290):c.7308G>A (p.Lys2436=)	rs2136545903
NM_025114.4(CEP290):c.7317T>A (p.Ile2439=)
NM_025114.4(CEP290):c.7329G>A (p.Glu2443=)	rs1592704594
NM_025114.4(CEP290):c.7335A>C (p.Val2445=)
NM_025114.4(CEP290):c.7347A>G (p.Ser2449=)
NM_025114.4(CEP290):c.7354T>C (p.Leu2452=)	rs2136544711
NM_025114.4(CEP290):c.7366T>C (p.Leu2456=)
NM_025114.4(CEP290):c.7374C>T (p.Ser2458=)
NM_025114.4(CEP290):c.7380T>A (p.Val2460=)
NM_025114.4(CEP290):c.7386T>G (p.Ala2462=)
NM_025114.4(CEP290):c.7416T>C (p.Ser2472=)
NM_025114.4(CEP290):c.7422T>C (p.Val2474=)
NM_025114.4(CEP290):c.7425T>C (p.Asn2475=)	rs2136543130
NM_025114.4(CEP290):c.7437C>T (p.Tyr2479=)	rs2136542833

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