ClinVar Miner

List of variants reported as uncertain significance for Severe early-childhood-onset retinal dystrophy by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys)	rs1800548	0.00090
NM_000350.3(ABCA4):c.2099G>T (p.Trp700Leu)	rs61749425
NM_000350.3(ABCA4):c.5065T>C (p.Ser1689Pro)	rs61753020

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