ClinVar Miner

List of variants in gene CEP290 reported by Clinical Genetics Laboratory, Skane University Hospital Lund

Minimum submission review status:		Collection method:
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.5668G>T (p.Gly1890Ter)	rs137852832	0.00006
NM_025114.4(CEP290):c.1992del (p.Pro665fs)	rs770175184	0.00001
NM_025114.4(CEP290):c.5493del (p.Ala1832fs)	rs386834158

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