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: 35
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HGVS dbSNP
NC_000001.11:g.94098982_94098991dup
NM_000350.3(ABCA4):c.1454del (p.Gly485fs)
NM_000350.3(ABCA4):c.1765del (p.Trp589fs) rs1557787559
NM_000350.3(ABCA4):c.1912C>T (p.Pro638Ser)
NM_000350.3(ABCA4):c.2010_2011TG[1] (p.Val671fs)
NM_000350.3(ABCA4):c.2294G>C (p.Ser765Thr)
NM_000350.3(ABCA4):c.2556del (p.Leu852fs)
NM_000350.3(ABCA4):c.2579T>C (p.Val860Ala)
NM_000350.3(ABCA4):c.2588-161_2615del
NM_000350.3(ABCA4):c.2588-7_2588-5delinsGG
NM_000350.3(ABCA4):c.2731_2732del (p.Glu911fs)
NM_000350.3(ABCA4):c.2875A>T (p.Thr959Ser) rs368846708
NM_000350.3(ABCA4):c.3194G>A (p.Gly1065Asp) rs886039300
NM_000350.3(ABCA4):c.346_347del (p.Ala116fs)
NM_000350.3(ABCA4):c.3583_3584insGT (p.Leu1195fs)
NM_000350.3(ABCA4):c.3639_3641CCA[1] (p.His1215del) rs1570367398
NM_000350.3(ABCA4):c.3701C>T (p.Pro1234Leu) rs1383231039
NM_000350.3(ABCA4):c.4128G>C (p.Gln1376His) rs1064797113
NM_000350.3(ABCA4):c.4269C>T (p.Gly1423=)
NM_000350.3(ABCA4):c.4598T>C (p.Phe1533Ser) rs1557770154
NM_000350.3(ABCA4):c.4635del (p.Ser1545_Leu1546insTer)
NM_000350.3(ABCA4):c.463G>A (p.Asp155Asn) rs1570426424
NM_000350.3(ABCA4):c.4786dup (p.Arg1596fs)
NM_000350.3(ABCA4):c.4848+1G>T
NM_000350.3(ABCA4):c.4848+2T>A
NM_000350.3(ABCA4):c.5113C>T (p.Arg1705Trp) rs771038310
NM_000350.3(ABCA4):c.517dup (p.Leu173fs)
NM_000350.3(ABCA4):c.5198T>C (p.Met1733Thr)
NM_000350.3(ABCA4):c.5329A>T (p.Met1777Leu)
NM_000350.3(ABCA4):c.5560G>T (p.Val1854Leu) rs374687000
NM_000350.3(ABCA4):c.5774G>T (p.Arg1925Ile) rs1208195953
NM_000350.3(ABCA4):c.5907_5909CCT[3] (p.Leu1971dup)
NM_000350.3(ABCA4):c.639del (p.Phe213fs)
NM_000350.3(ABCA4):c.6816+2T>A rs112005636
NM_000350.3(ABCA4):c.764G>A (p.Arg255His) rs148387660

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