ClinVar Miner

List of variants in gene ABCA4 reported as uncertain significance for Inborn genetic diseases

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Total variants: 42
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HGVS dbSNP gnomAD frequency
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.1411G>A (p.Glu471Lys) rs1800548 0.00090
NM_000350.3(ABCA4):c.571T>A (p.Phe191Ile) rs200696846 0.00006
NM_000350.3(ABCA4):c.1477G>A (p.Asp493Asn) rs541850518 0.00004
NM_000350.3(ABCA4):c.3539C>T (p.Ser1180Leu) rs267598773 0.00004
NM_000350.3(ABCA4):c.3586A>T (p.Thr1196Ser) rs370967816 0.00004
NM_000350.3(ABCA4):c.4132G>A (p.Val1378Met) rs777063656 0.00004
NM_000350.3(ABCA4):c.5479G>A (p.Ala1827Thr) rs530098237 0.00004
NM_000350.3(ABCA4):c.5888G>A (p.Arg1963His) rs758431657 0.00004
NM_000350.3(ABCA4):c.1615C>G (p.Leu539Val) rs748615703 0.00002
NM_000350.3(ABCA4):c.2126C>T (p.Ser709Leu) rs374152623 0.00002
NM_000350.3(ABCA4):c.3372C>G (p.Asp1124Glu) rs746647738 0.00001
NM_000350.3(ABCA4):c.4037C>T (p.Thr1346Met) rs780550919 0.00001
NM_000350.3(ABCA4):c.5273A>G (p.Glu1758Gly) rs779399010 0.00001
NM_000350.3(ABCA4):c.5618A>G (p.Asp1873Gly) rs778550733 0.00001
NM_000350.3(ABCA4):c.1057T>C (p.Ser353Pro)
NM_000350.3(ABCA4):c.1142C>T (p.Pro381Leu)
NM_000350.3(ABCA4):c.1457C>A (p.Pro486His)
NM_000350.3(ABCA4):c.2134A>G (p.Ile712Val)
NM_000350.3(ABCA4):c.2348A>G (p.Gln783Arg)
NM_000350.3(ABCA4):c.2376G>C (p.Lys792Asn)
NM_000350.3(ABCA4):c.2759G>A (p.Arg920His) rs376526710
NM_000350.3(ABCA4):c.354G>C (p.Glu118Asp)
NM_000350.3(ABCA4):c.3904C>T (p.Pro1302Ser)
NM_000350.3(ABCA4):c.3992G>T (p.Gly1331Val)
NM_000350.3(ABCA4):c.4067A>C (p.Gln1356Pro) rs994570602
NM_000350.3(ABCA4):c.4090C>A (p.Gln1364Lys)
NM_000350.3(ABCA4):c.4115A>C (p.Asp1372Ala)
NM_000350.3(ABCA4):c.413C>A (p.Thr138Asn)
NM_000350.3(ABCA4):c.5336A>T (p.Tyr1779Phe)
NM_000350.3(ABCA4):c.5564C>T (p.Thr1855Ile)
NM_000350.3(ABCA4):c.5959G>A (p.Gly1987Arg) rs777300047
NM_000350.3(ABCA4):c.6040A>G (p.Met2014Val) rs201883531
NM_000350.3(ABCA4):c.6103C>T (p.Leu2035Phe)
NM_000350.3(ABCA4):c.629T>A (p.Leu210Gln) rs1246844424
NM_000350.3(ABCA4):c.6334G>A (p.Val2112Ile) rs571031879
NM_000350.3(ABCA4):c.640A>T (p.Ile214Phe)
NM_000350.3(ABCA4):c.6491G>A (p.Gly2164Asp)
NM_000350.3(ABCA4):c.6561G>T (p.Gln2187His)
NM_000350.3(ABCA4):c.791G>A (p.Arg264His) rs567985213
NM_000350.3(ABCA4):c.923G>A (p.Gly308Asp)

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