ClinVar Miner

List of variants reported as pathogenic for CEP290-related ciliopathy by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

Included ClinVar conditions (17):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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.4966G>T (p.Glu1656Ter)	rs62638179	0.00006
NM_025114.4(CEP290):c.4792_4795del (p.Lys1598fs)	rs1592833648

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