ClinVar Miner

List of variants in gene CEP290 studied for Rod-cone dystrophy

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.1691del (p.Gly564fs)	rs2500938116
NM_025114.4(CEP290):c.2954del (p.Met985fs)	rs2500524015
NM_025114.4(CEP290):c.6793_6794del (p.Ser2265fs)	rs2499528307

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