List of variants in gene CEP290 reported as uncertain significance by Revvity Omics, Revvity

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln)	rs188164241	0.00405
NM_025114.4(CEP290):c.4031T>C (p.Val1344Ala)	rs369227219	0.00067
NM_025114.4(CEP290):c.1670G>A (p.Arg557His)	rs184018899	0.00064
NM_025114.4(CEP290):c.6628C>T (p.Arg2210Cys)	rs374852145	0.00022
NM_025114.4(CEP290):c.3593C>T (p.Ser1198Leu)	rs372640024	0.00003
NM_025114.4(CEP290):c.1554T>A (p.Thr518=)	rs767529344	0.00001
NM_025114.4(CEP290):c.2191C>A (p.Gln731Lys)	rs767250881	0.00001
NM_025114.4(CEP290):c.473A>G (p.Glu158Gly)	rs752236431	0.00001
NM_025114.4(CEP290):c.4864C>T (p.Arg1622Cys)	rs746576984	0.00001
NM_025114.4(CEP290):c.1097T>C (p.Met366Thr)	rs756538253
NM_025114.4(CEP290):c.1676T>C (p.Met559Thr)	rs367816078
NM_025114.4(CEP290):c.3693G>T (p.Met1231Ile)	rs1221399740
NM_025114.4(CEP290):c.3878T>G (p.Leu1293Arg)	rs1444244014

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