ClinVar Miner

List of variants reported as likely pathogenic for CEP290-related ciliopathy by Pathology and Clinical Laboratory Medicine, King Fahad Medical City

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.4714G>A (p.Glu1572Lys)	rs1292516576
NM_025114.4(CEP290):c.5704G>T (p.Glu1902Ter)	rs267606719
NM_025114.4(CEP290):c.673_674del (p.Leu225fs)	rs886039805

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