ClinVar Miner

List of variants in gene CEP290 reported as uncertain significance by Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals

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.297+1G>T	rs878853360	0.00001
NM_025114.4(CEP290):c.148C>T (p.His50Tyr)	rs878853363

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