List of variants in gene CEP290 reported as uncertain significance for Optic atrophy

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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: 4

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.2615C>T (p.Ser872Leu)	rs373341530	0.00030
NM_025114.4(CEP290):c.2447G>A (p.Arg816His)	rs768448895	0.00003
NM_025114.4(CEP290):c.3880C>A (p.Gln1294Lys)
NM_025114.4(CEP290):c.4596C>G (p.His1532Gln)

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