ClinVar Miner

List of variants studied for Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 by Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677 0.00308
NM_000350.3(ABCA4):c.6647C>T (p.Ala2216Val) rs886044763 0.00002

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