ClinVar Miner

List of variants in gene ABCA3 reported as uncertain significance by Invitae

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Gene type:
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Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_001089.3(ABCA3):c.3279G>A (p.Glu1093=) rs148535912 0.00071
NM_001089.3(ABCA3):c.2854G>A (p.Asp952Asn) rs144138653 0.00046
NM_001089.3(ABCA3):c.3112G>A (p.Val1038Ile) rs34994813 0.00039
NM_001089.3(ABCA3):c.3505G>A (p.Val1169Met) rs546091864 0.00024
NM_001089.3(ABCA3):c.3841G>A (p.Ala1281Thr) rs141745439 0.00019
NM_001089.3(ABCA3):c.838C>T (p.Arg280Cys) rs201299260 0.00019
NM_001089.3(ABCA3):c.2857G>A (p.Asp953Asn) rs138092785 0.00012
NM_001089.3(ABCA3):c.4370G>A (p.Arg1457Gln) rs201226715 0.00010
NM_001089.3(ABCA3):c.446C>T (p.Ala149Val) rs145483014 0.00008
NM_001089.3(ABCA3):c.659G>A (p.Arg220Gln) rs769805747 0.00007
NM_001089.3(ABCA3):c.2809G>A (p.Val937Ile) rs376036997 0.00005
NM_001089.3(ABCA3):c.4027C>T (p.Arg1343Trp) rs375124752 0.00004
NM_001089.3(ABCA3):c.3335C>G (p.Ala1112Gly) rs777414202 0.00003
NM_001089.3(ABCA3):c.1042G>A (p.Ala348Thr) rs777482979 0.00002
NM_001089.3(ABCA3):c.3497C>T (p.Ala1166Val) rs148473733 0.00002
NM_001089.3(ABCA3):c.3865A>G (p.Ile1289Val) rs767424573 0.00002
NM_001089.3(ABCA3):c.1106G>A (p.Ser369Asn) rs146349964 0.00001
NM_001089.3(ABCA3):c.1672G>A (p.Glu558Lys) rs374908506 0.00001
NM_001089.3(ABCA3):c.2032G>A (p.Ala678Thr) rs769584477 0.00001
NM_001089.3(ABCA3):c.2141G>A (p.Arg714His) rs187784898 0.00001
NM_001089.3(ABCA3):c.2173G>A (p.Glu725Lys) rs770082318 0.00001
NM_001089.3(ABCA3):c.2414+4C>T rs780517355 0.00001
NM_001089.3(ABCA3):c.3313C>T (p.Leu1105Phe) rs1264428481 0.00001
NM_001089.3(ABCA3):c.4149C>G (p.Ile1383Met) rs772158879 0.00001
NM_001089.3(ABCA3):c.4271C>T (p.Thr1424Met) rs369872536 0.00001
NM_001089.3(ABCA3):c.4868C>T (p.Ala1623Val) rs577998828 0.00001
NM_001089.3(ABCA3):c.1063A>C (p.Ile355Leu)
NM_001089.3(ABCA3):c.1218C>G (p.Cys406Trp)
NM_001089.3(ABCA3):c.1373T>G (p.Leu458Arg) rs2141715542
NM_001089.3(ABCA3):c.155C>T (p.Pro52Leu)
NM_001089.3(ABCA3):c.1612G>A (p.Val538Met)
NM_001089.3(ABCA3):c.1653C>G (p.Asp551Glu)
NM_001089.3(ABCA3):c.1664A>G (p.Asn555Ser)
NM_001089.3(ABCA3):c.1678C>G (p.Gln560Glu)
NM_001089.3(ABCA3):c.1697G>A (p.Gly566Asp)
NM_001089.3(ABCA3):c.190G>A (p.Glu64Lys)
NM_001089.3(ABCA3):c.2006T>C (p.Met669Thr)
NM_001089.3(ABCA3):c.2018T>A (p.Leu673His)
NM_001089.3(ABCA3):c.2149G>A (p.Val717Met)
NM_001089.3(ABCA3):c.2164T>G (p.Phe722Val)
NM_001089.3(ABCA3):c.2188G>A (p.Gly730Arg)
NM_001089.3(ABCA3):c.2195G>A (p.Arg732His)
NM_001089.3(ABCA3):c.2282C>G (p.Thr761Arg) rs369081312
NM_001089.3(ABCA3):c.2309C>A (p.Pro770Gln) rs143929832
NM_001089.3(ABCA3):c.2323C>G (p.Gln775Glu)
NM_001089.3(ABCA3):c.2434A>G (p.Lys812Glu) rs2093673183
NM_001089.3(ABCA3):c.2509C>T (p.Leu837Phe)
NM_001089.3(ABCA3):c.2605G>T (p.Ala869Ser) rs753548724
NM_001089.3(ABCA3):c.2644G>A (p.Asp882Asn)
NM_001089.3(ABCA3):c.2741A>C (p.Lys914Thr) rs763862811
NM_001089.3(ABCA3):c.2776G>T (p.Val926Leu) rs1409070251
NM_001089.3(ABCA3):c.2822T>C (p.Leu941Pro)
NM_001089.3(ABCA3):c.2992C>T (p.Arg998Cys)
NM_001089.3(ABCA3):c.3386A>G (p.His1129Arg) rs1446080254
NM_001089.3(ABCA3):c.3509G>A (p.Arg1170His)
NM_001089.3(ABCA3):c.3518C>T (p.Thr1173Met)
NM_001089.3(ABCA3):c.3520C>T (p.Arg1174Trp)
NM_001089.3(ABCA3):c.3579C>G (p.Ile1193Met)
NM_001089.3(ABCA3):c.3861T>C (p.Tyr1287=)
NM_001089.3(ABCA3):c.4213G>A (p.Ala1405Thr)
NM_001089.3(ABCA3):c.4284G>A (p.Met1428Ile)
NM_001089.3(ABCA3):c.42C>G (p.Asn14Lys)
NM_001089.3(ABCA3):c.4363C>T (p.Arg1455Trp)
NM_001089.3(ABCA3):c.4450C>T (p.Arg1484Trp)
NM_001089.3(ABCA3):c.4451G>A (p.Arg1484Gln)
NM_001089.3(ABCA3):c.4694A>G (p.Lys1565Arg) rs2141688001
NM_001089.3(ABCA3):c.4843G>A (p.Val1615Met)
NM_001089.3(ABCA3):c.4891G>A (p.Val1631Met)
NM_001089.3(ABCA3):c.4966G>A (p.Asp1656Asn)
NM_001089.3(ABCA3):c.4967A>C (p.Asp1656Ala)
NM_001089.3(ABCA3):c.4990G>C (p.Gly1664Arg) rs748197095
NM_001089.3(ABCA3):c.5040G>A (p.Val1680=)
NM_001089.3(ABCA3):c.5109dup (p.Arg1704fs)
NM_001089.3(ABCA3):c.590C>T (p.Thr197Ile)
NM_001089.3(ABCA3):c.607_609del (p.Glu203del)
NM_001089.3(ABCA3):c.640G>C (p.Val214Leu)
NM_001089.3(ABCA3):c.688G>A (p.Ala230Thr)
NM_001089.3(ABCA3):c.695G>A (p.Arg232His)
NM_001089.3(ABCA3):c.759C>A (p.Asp253Glu)
NM_001089.3(ABCA3):c.95C>T (p.Pro32Leu)

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