ClinVar Miner

List of variants reported as pathogenic for age-related macular degeneration by Genome-Nilou Lab

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_000350.3(ABCA4):c.1749_1750del (p.Lys583fs) rs2101079015
NM_000350.3(ABCA4):c.4128+1G>A rs2101036750

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