ClinVar Miner

List of variants reported as uncertain significance for CEP290-related ciliopathy by Provincial Medical Genetics Program of British Columbia, University of British Columbia

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.3660G>T (p.Lys1220Asn)	rs201982308	0.00024
NM_025114.4(CEP290):c.6628C>T (p.Arg2210Cys)	rs374852145	0.00024

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