ClinVar Miner

List of variants in gene ABCA4 reported as pathogenic for Visual loss; Blindness; Macular degeneration

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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HGVS dbSNP
NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter) rs61750654

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