ClinVar Miner

List of variants in gene ABCA3 reported as pathogenic

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Gene type:
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Total variants: 95
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HGVS dbSNP gnomAD frequency
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682 0.00293
NM_001089.3(ABCA3):c.838C>T (p.Arg280Cys) rs201299260 0.00019
NM_001089.3(ABCA3):c.2880G>C (p.Leu960Phe) rs1022923684 0.00004
NM_001089.3(ABCA3):c.4195G>A (p.Val1399Met) rs763166660 0.00003
NM_001089.3(ABCA3):c.537G>C (p.Trp179Cys) rs2505674367 0.00003
NM_001089.3(ABCA3):c.128G>A (p.Arg43His) rs754714105 0.00002
NM_001089.3(ABCA3):c.1474dup (p.Tyr492fs) rs756855585 0.00002
NM_001089.3(ABCA3):c.2890G>A (p.Gly964Ser) rs141233327 0.00002
NM_001089.3(ABCA3):c.604G>A (p.Gly202Arg) rs751061681 0.00002
NM_001089.3(ABCA3):c.1258C>T (p.Gln420Ter) rs1391169179 0.00001
NM_001089.3(ABCA3):c.127C>T (p.Arg43Cys) rs373617498 0.00001
NM_001089.3(ABCA3):c.1297C>T (p.Gln433Ter) rs766137929 0.00001
NM_001089.3(ABCA3):c.1705G>A (p.Gly569Ser) rs745941309 0.00001
NM_001089.3(ABCA3):c.3426G>A (p.Trp1142Ter) rs121909181 0.00001
NM_001089.3(ABCA3):c.3863-98C>T rs189077405 0.00001
NM_001089.3(ABCA3):c.440C>T (p.Pro147Leu) rs200171469 0.00001
NM_001089.3(ABCA3):c.622C>T (p.Arg208Trp) rs768483175 0.00001
NM_001089.3(ABCA3):c.629G>T (p.Gly210Val) rs1043865919 0.00001
NM_001089.3(ABCA3):c.743C>T (p.Pro248Leu) rs771984033 0.00001
NC_000016.10:g.2317765del rs2505666185
NC_000016.9:g.(?_2333167)_(2335667_?)del
NC_000016.9:g.(?_2347310)_(2347942_?)del
NC_000016.9:g.(?_2353950)_(2354171_?)del
NC_000016.9:g.(?_2358431)_(2369861_?)del
NC_000016.9:g.(?_2367264)_(2367785_?)del
NC_000016.9:g.(?_2367264)_(2376467_?)del
NM_001089.3(ABCA3):c.1194G>A (p.Trp398Ter) rs2093701505
NM_001089.3(ABCA3):c.1240G>A (p.Ala414Thr) rs1254014649
NM_001089.3(ABCA3):c.1286-2A>G rs2141715669
NM_001089.3(ABCA3):c.1302G>A (p.Trp434Ter) rs2505650129
NM_001089.3(ABCA3):c.1303C>T (p.Arg435Ter) rs750071923
NM_001089.3(ABCA3):c.1403G>A (p.Trp468Ter) rs2505649979
NM_001089.3(ABCA3):c.1430del (p.Gln477fs) rs2505649944
NM_001089.3(ABCA3):c.143C>A (p.Ser48Ter) rs763721411
NM_001089.3(ABCA3):c.1444C>T (p.Gln482Ter) rs2505649915
NM_001089.3(ABCA3):c.1455C>A (p.Tyr485Ter) rs1406324789
NM_001089.3(ABCA3):c.1455C>G (p.Tyr485Ter) rs1406324789
NM_001089.3(ABCA3):c.1467+1903_1612-126del
NM_001089.3(ABCA3):c.1470del (p.Ser491fs) rs2093686699
NM_001089.3(ABCA3):c.1702A>G (p.Asn568Asp) rs121909184
NM_001089.3(ABCA3):c.1729_1730del (p.Ser577fs) rs1052598974
NM_001089.3(ABCA3):c.1755del (p.Thr586fs) rs2505642538
NM_001089.3(ABCA3):c.1890C>A (p.Tyr630Ter) rs572101154
NM_001089.3(ABCA3):c.1926del (p.Glu643fs) rs2093682572
NM_001089.3(ABCA3):c.1939C>T (p.Gln647Ter) rs2093682532
NM_001089.3(ABCA3):c.2188_2189dup (p.Asp731fs) rs2505639879
NM_001089.3(ABCA3):c.2264-2A>G rs2141705504
NM_001089.3(ABCA3):c.2279T>G (p.Met760Arg) rs2505637621
NM_001089.3(ABCA3):c.2404_2405del (p.Ser802fs) rs2505637318
NM_001089.3(ABCA3):c.2429_2430del (p.Phe810fs) rs2505632878
NM_001089.3(ABCA3):c.2708dup (p.His904fs) rs2505627637
NM_001089.3(ABCA3):c.2741A>G (p.Lys914Arg) rs763862811
NM_001089.3(ABCA3):c.2769G>A (p.Trp923Ter) rs1326254168
NM_001089.3(ABCA3):c.2958del (p.Asp988fs) rs2505627227
NM_001089.3(ABCA3):c.302T>C (p.Leu101Pro) rs121909182
NM_001089.3(ABCA3):c.3050del (p.Gly1017fs) rs2505625639
NM_001089.3(ABCA3):c.3057dup (p.Asn1020Ter) rs2505625621
NM_001089.3(ABCA3):c.3122T>A (p.Leu1041Ter) rs2505625491
NM_001089.3(ABCA3):c.316C>T (p.Arg106Ter) rs1278044377
NM_001089.3(ABCA3):c.3229T>A (p.Phe1077Ile) rs1195611781
NM_001089.3(ABCA3):c.3235C>T (p.Gln1079Ter) rs2141696548
NM_001089.3(ABCA3):c.3241C>T (p.Arg1081Trp) rs369277188
NM_001089.3(ABCA3):c.3322del (p.Met1108fs) rs2141695316
NM_001089.3(ABCA3):c.3348_3360del (p.Ile1117fs) rs2505623440
NM_001089.3(ABCA3):c.3391C>T (p.Gln1131Ter)
NM_001089.3(ABCA3):c.3600CTT[3] (p.Phe1203del) rs750862009
NM_001089.3(ABCA3):c.3632del (p.Thr1211fs) rs2505621915
NM_001089.3(ABCA3):c.3805G>T (p.Glu1269Ter) rs776731355
NM_001089.3(ABCA3):c.3902dup (p.Val1303fs) rs2505619224
NM_001089.3(ABCA3):c.3992_3993del (p.Arg1331fs) rs2093657780
NM_001089.3(ABCA3):c.3997_3998del (p.Arg1333fs) rs2093657764
NM_001089.3(ABCA3):c.4075C>T (p.Gln1359Ter) rs1338219387
NM_001089.3(ABCA3):c.4141_4142del (p.Leu1381fs) rs2093654880
NM_001089.3(ABCA3):c.430G>T (p.Glu144Ter) rs2505675549
NM_001089.3(ABCA3):c.4454del (p.Gly1485fs)
NM_001089.3(ABCA3):c.4483_4507del (p.Val1495fs) rs1233027765
NM_001089.3(ABCA3):c.4545C>G (p.Tyr1515Ter) rs2093650935
NM_001089.3(ABCA3):c.464G>A (p.Arg155Gln) rs2505674511
NM_001089.3(ABCA3):c.4658T>C (p.Leu1553Pro) rs121909183
NM_001089.3(ABCA3):c.4661G>A (p.Trp1554Ter) rs1167522067
NM_001089.3(ABCA3):c.4675C>T (p.Arg1559Ter)
NM_001089.3(ABCA3):c.470del (p.Ser157fs)
NM_001089.3(ABCA3):c.4711del (p.Ser1571fs) rs2505612312
NM_001089.3(ABCA3):c.4765C>T (p.Gln1589Ter)
NM_001089.3(ABCA3):c.4772A>C (p.Gln1591Pro) rs28936691
NM_001089.3(ABCA3):c.4776del (p.Phe1592fs) rs2501017765
NM_001089.3(ABCA3):c.4858C>T (p.Gln1620Ter) rs2505611544
NM_001089.3(ABCA3):c.4899_4903dup (p.Phe1635Ter) rs2505611427
NM_001089.3(ABCA3):c.4909+1G>A rs1567335355
NM_001089.3(ABCA3):c.59G>T (p.Arg20Leu) rs201777730
NM_001089.3(ABCA3):c.784C>T (p.Gln262Ter) rs2505669390
NM_001089.3(ABCA3):c.817_821del (p.Tyr273fs) rs775903641
NM_001089.3(ABCA3):c.879C>A (p.Tyr293Ter) rs770140490
NM_001089.3(ABCA3):c.914G>A (p.Trp305Ter) rs919615608
NM_001089.3(ABCA3):c.977T>C (p.Leu326Pro) rs121909185

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