ClinVar Miner

List of variants reported as pathogenic for age-related macular degeneration by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.4838del (p.Asp1613fs) rs61752438
NM_019098.5(CNGB3):c.1781+1G>T rs1375507464

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