ClinVar Miner

List of variants in gene ABCA4 reported as not provided by NEI Ophthalmic Genomics Laboratory, National Institutes of Health

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Gene type:
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.6730-3T>C rs1800717 0.15096
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564 0.00654
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile) rs56357060 0.00189
NM_000350.3(ABCA4):c.3595C>T (p.Gln1199Ter) rs137853898

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