ClinVar Miner

List of variants in gene ABCA4 reported as uncertain significance by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466 0.04126
NM_000350.3(ABCA4):c.5843C>T (p.Pro1948Leu) rs56142141 0.03191
NM_000350.3(ABCA4):c.4253+43G>A rs61754045 0.00486
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val) rs62646863 0.00222
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) rs1800552 0.00153
NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile) rs61749440 0.00133
NM_000350.3(ABCA4):c.514G>A (p.Gly172Ser) rs61748532 0.00033
NM_000350.3(ABCA4):c.203C>T (p.Pro68Leu) rs62654397 0.00001
NM_000350.3(ABCA4):c.5645T>C (p.Met1882Thr) rs780817685 0.00001
NM_000350.3(ABCA4):c.2318A>G (p.Tyr773Cys) rs764727316
NM_000350.3(ABCA4):c.6453G>T (p.Met2151Ile) rs1057518954
NM_000350.3(ABCA4):c.676C>A (p.Arg226Ser) rs149780335
NM_000350.3(ABCA4):c.785A>G (p.Asp262Gly) rs1661753710

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