ClinVar Miner

List of variants in gene ABCA4 reported as pathogenic by Molecular Genetics Laboratory, Institute for Ophthalmic Research

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Total variants: 30
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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.764G>A (p.Arg255His) rs148387660 0.00005
NM_000350.3(ABCA4):c.5198T>C (p.Met1733Thr) rs765563320 0.00004
NM_000350.3(ABCA4):c.3194G>A (p.Gly1065Asp) rs886039300 0.00001
NM_000350.3(ABCA4):c.463G>A (p.Asp155Asn) rs1570426424 0.00001
NM_000350.3(ABCA4):c.5113C>T (p.Arg1705Trp) rs771038310 0.00001
NM_000350.3(ABCA4):c.5774G>T (p.Arg1925Ile) rs1208195953 0.00001
NM_000350.2(ABCA4):c.571_580dup rs1662216783
NM_000350.2(ABCA4):c.[5512C>G;5882G>A]
NM_000350.3(ABCA4):c.1454del (p.Gly485fs) rs1661577361
NM_000350.3(ABCA4):c.1765del (p.Trp589fs) rs1557787559
NM_000350.3(ABCA4):c.1912C>T (p.Pro638Ser) rs754088610
NM_000350.3(ABCA4):c.2012_2013del (p.Val671fs) rs1661098509
NM_000350.3(ABCA4):c.2294G>C (p.Ser765Thr) rs61749429
NM_000350.3(ABCA4):c.2556del (p.Leu852fs) rs1660937747
NM_000350.3(ABCA4):c.2579T>C (p.Val860Ala) rs1660936779
NM_000350.3(ABCA4):c.2588-161_2615del rs1660844326
NM_000350.3(ABCA4):c.2588-7_2588-5delinsGG rs1660845802
NM_000350.3(ABCA4):c.2731_2732del (p.Glu911fs) rs1660761326
NM_000350.3(ABCA4):c.2875A>T (p.Thr959Ser) rs368846708
NM_000350.3(ABCA4):c.346_347del (p.Ala116fs) rs1662507319
NM_000350.3(ABCA4):c.3583_3584insGT (p.Leu1195fs) rs1660447204
NM_000350.3(ABCA4):c.4128G>C (p.Gln1376His) rs1064797113
NM_000350.3(ABCA4):c.4269C>T (p.Gly1423=) rs778456901
NM_000350.3(ABCA4):c.4598T>C (p.Phe1533Ser) rs1557770154
NM_000350.3(ABCA4):c.4635del (p.Ser1545_Leu1546insTer) rs1659954489
NM_000350.3(ABCA4):c.517dup (p.Leu173fs) rs1662327418
NM_000350.3(ABCA4):c.5907CCT[3] (p.Leu1971_Gly1972insLeu) rs1659430629
NM_000350.3(ABCA4):c.639del (p.Phe213fs) rs1662213462
NM_000350.3(ABCA4):c.6816+2T>A rs112005636

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