ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
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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