ClinVar Miner

List of variants in gene CEP290 reported as uncertain significance by Clinical Genetics, Academic Medical Center

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.341G>A (p.Arg114His)	rs150296134	0.00073
NM_025114.4(CEP290):c.2273T>C (p.Val758Ala)	rs369868981	0.00002

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