ClinVar Miner

List of variants in gene ABCA4 reported as pathogenic for Isolated macular dystrophy

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.5329A>T (p.Met1777Leu) rs375184282 0.00008
NM_000350.3(ABCA4):c.5198T>C (p.Met1733Thr) rs765563320 0.00004
NM_000350.3(ABCA4):c.463G>A (p.Asp155Asn) rs1570426424 0.00001
NM_000350.3(ABCA4):c.1912C>T (p.Pro638Ser) rs754088610
NM_000350.3(ABCA4):c.2294G>C (p.Ser765Thr) rs61749429
NM_000350.3(ABCA4):c.2579T>C (p.Val860Ala) rs1660936779
NM_000350.3(ABCA4):c.2588-161_2615del rs1660844326
NM_000350.3(ABCA4):c.2875A>T (p.Thr959Ser) rs368846708

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