ClinVar Miner

List of variants reported for Cone-rod dystrophy 3 by Division of Human Genetics, Children's Hospital of Philadelphia

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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.5714+5G>A rs61751407 0.00032
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00029

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