ClinVar Miner

List of variants in gene ABCA4 reported as pathogenic by Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals

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Total variants: 4
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HGVS dbSNP
NM_000350.3(ABCA4):c.4222T>C (p.Trp1408Arg) rs61750135
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr) rs61751402
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404
NM_000350.3(ABCA4):c.5714+5G>A rs61751407

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