List of variants in gene combination CEP290, LOC129390514 reported as likely benign for autosomal recessive disease

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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: 19

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.6271-15C>T	rs764251517	0.00004
NM_025114.4(CEP290):c.6271-8T>C	rs1039146791	0.00001
NM_025114.4(CEP290):c.6271-11T>C
NM_025114.4(CEP290):c.6271-13T>G
NM_025114.4(CEP290):c.6271-16G>A
NM_025114.4(CEP290):c.6271-9A>T
NM_025114.4(CEP290):c.6291G>A (p.Lys2097=)	rs2136785499
NM_025114.4(CEP290):c.6294A>G (p.Glu2098=)	rs1213494233
NM_025114.4(CEP290):c.6324A>G (p.Ala2108=)
NM_025114.4(CEP290):c.6327A>G (p.Glu2109=)
NM_025114.4(CEP290):c.6336G>A (p.Arg2112=)	rs1475220538
NM_025114.4(CEP290):c.6348T>C (p.His2116=)
NM_025114.4(CEP290):c.6351T>C (p.Val2117=)	rs2136784239
NM_025114.4(CEP290):c.6354A>G (p.Arg2118=)	rs762397066
NM_025114.4(CEP290):c.6357+11A>C
NM_025114.4(CEP290):c.6357+16C>T
NM_025114.4(CEP290):c.6357+17C>T
NM_025114.4(CEP290):c.6357+20A>G
NM_025114.4(CEP290):c.6357+9_6357+14del

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