ClinVar Miner

List of variants reported as pathogenic for CACNA1F-related retinopathy by Genomics England Pilot Project, Genomics England

Included ClinVar conditions (5):

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_001256789.3(CACNA1F):c.1840C>T (p.Arg614Ter)	rs886039559	0.00001
NM_001256789.3(CACNA1F):c.1877+1G>T	rs2147916480

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