ClinVar Miner

List of variants reported as pathogenic for CEP290-related ciliopathy by Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn

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.4723A>T (p.Lys1575Ter)	rs137852834	0.00009
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs)	rs386834148

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