ClinVar Miner

List of variants reported as pathogenic for CACNA2D4-related retinopathy by OMIM

Included ClinVar conditions (1):

Retinal cone dystrophy 4

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_172364.5(CACNA2D4):c.1882C>T (p.Arg628Ter)	rs200098356	0.00078
NM_172364.5(CACNA2D4):c.2406C>A (p.Tyr802Ter)	rs71454844	0.00057
NM_172364.4(CACNA2D4):c.1720-74_2551+1189delinsTG

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