ClinVar Miner

List of variants in gene ABCA1 reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 188
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HGVS dbSNP gnomAD frequency
NM_005502.4(ABCA1):c.1196T>C (p.Val399Ala) rs9282543 0.00352
NM_005502.4(ABCA1):c.5774G>A (p.Arg1925Gln) rs142688906 0.00227
NM_005502.4(ABCA1):c.3542C>T (p.Ser1181Phe) rs76881554 0.00145
NM_005502.4(ABCA1):c.254C>T (p.Pro85Leu) rs145183203 0.00121
NM_005502.4(ABCA1):c.3053A>G (p.Asp1018Gly) rs140365800 0.00072
NM_005502.4(ABCA1):c.3544G>A (p.Ala1182Thr) rs143180998 0.00061
NM_005502.4(ABCA1):c.99A>G (p.Leu33=) rs141151519 0.00060
NM_005502.4(ABCA1):c.5039G>A (p.Arg1680Gln) rs150125857 0.00032
NM_005502.4(ABCA1):c.2660G>T (p.Cys887Phe) rs187652566 0.00031
NM_005502.4(ABCA1):c.1486C>T (p.Arg496Trp) rs147675550 0.00029
NM_005502.4(ABCA1):c.2444A>G (p.Glu815Gly) rs145582736 0.00017
NM_005502.4(ABCA1):c.4250G>A (p.Arg1417His) rs116034780 0.00017
NM_005502.4(ABCA1):c.4773+6C>T rs368667473 0.00016
NM_005502.4(ABCA1):c.1780G>A (p.Ala594Thr) rs199655961 0.00014
NM_005502.4(ABCA1):c.1716G>A (p.Gly572=) rs143299210 0.00011
NM_005502.4(ABCA1):c.1276T>C (p.Phe426Leu) rs201586430 0.00009
NM_005502.4(ABCA1):c.2903T>C (p.Met968Thr) rs776604878 0.00009
NM_005502.4(ABCA1):c.4037G>A (p.Gly1346Glu) rs762770081 0.00007
NM_005502.4(ABCA1):c.5690G>A (p.Arg1897Gln) rs564049659 0.00007
NM_005502.4(ABCA1):c.1973G>T (p.Gly658Val) rs758163019 0.00006
NM_005502.4(ABCA1):c.1997G>A (p.Arg666Gln) rs142374413 0.00006
NM_005502.4(ABCA1):c.5492C>T (p.Ala1831Val) rs753324965 0.00006
NM_005502.4(ABCA1):c.2914C>T (p.Arg972Trp) rs775581315 0.00005
NM_005502.4(ABCA1):c.3902-19C>T rs868826271 0.00005
NM_005502.4(ABCA1):c.4030C>T (p.Arg1344Trp) rs193087674 0.00004
NM_005502.4(ABCA1):c.4249C>T (p.Arg1417Cys) rs749089795 0.00004
NM_005502.4(ABCA1):c.3583C>T (p.Arg1195Trp) rs375234343 0.00003
NM_005502.4(ABCA1):c.3818G>A (p.Arg1273Gln) rs151175933 0.00003
NM_005502.4(ABCA1):c.1912C>T (p.Arg638Trp) rs199571829 0.00002
NM_005502.4(ABCA1):c.3103+3G>A rs758322157 0.00002
NM_005502.4(ABCA1):c.3443C>T (p.Thr1148Ile) rs779114859 0.00002
NM_005502.4(ABCA1):c.4274C>T (p.Pro1425Leu) rs755825383 0.00002
NM_005502.4(ABCA1):c.5924A>T (p.Asn1975Ile) rs748663329 0.00002
NM_005502.4(ABCA1):c.82G>C (p.Glu28Gln) rs755348141 0.00002
NM_005502.4(ABCA1):c.1900C>T (p.Arg634Trp) rs766136483 0.00001
NM_005502.4(ABCA1):c.1934C>T (p.Thr645Met) rs775631816 0.00001
NM_005502.4(ABCA1):c.2014C>T (p.Arg672Trp) rs759576379 0.00001
NM_005502.4(ABCA1):c.2607A>T (p.Glu869Asp) rs1255744285 0.00001
NM_005502.4(ABCA1):c.3103+4C>A rs1259056486 0.00001
NM_005502.4(ABCA1):c.3141T>G (p.Phe1047Leu) rs1832122282 0.00001
NM_005502.4(ABCA1):c.376C>T (p.Arg126Cys) rs1286945641 0.00001
NM_005502.4(ABCA1):c.3787+5C>A rs371940418 0.00001
NM_005502.4(ABCA1):c.3872C>T (p.Ala1291Val) rs1831520438 0.00001
NM_005502.4(ABCA1):c.4024C>T (p.Arg1342Trp) rs760786920 0.00001
NM_005502.4(ABCA1):c.4196C>T (p.Thr1399Met) rs199668464 0.00001
NM_005502.4(ABCA1):c.4482A>G (p.Ala1494=) rs1250688041 0.00001
NM_005502.4(ABCA1):c.4939G>A (p.Ala1647Thr) rs764283065 0.00001
NM_005502.4(ABCA1):c.5002G>A (p.Val1668Ile) rs767589350 0.00001
NM_005502.4(ABCA1):c.5131G>A (p.Val1711Ile) rs377600690 0.00001
NM_005502.4(ABCA1):c.5215G>A (p.Ala1739Thr) rs1030249332 0.00001
NM_005502.4(ABCA1):c.5515C>T (p.Arg1839Cys) rs755307445 0.00001
NM_005502.4(ABCA1):c.5552G>A (p.Arg1851Gln) rs1055285452 0.00001
NM_005502.4(ABCA1):c.680G>A (p.Arg227Gln) rs555803243 0.00001
NM_005502.4(ABCA1):c.68G>A (p.Cys23Tyr) rs769337995 0.00001
NM_005502.4(ABCA1):c.787C>G (p.His263Asp) rs200572505 0.00001
NM_005502.4(ABCA1):c.983A>G (p.Asn328Ser) rs1015644827 0.00001
NC_000009.11:g.(?_107645300)_(107665960_?)dup
NM_005502.4(ABCA1):c.1055-3T>C
NM_005502.4(ABCA1):c.1091C>A (p.Ser364Tyr)
NM_005502.4(ABCA1):c.1130C>A (p.Pro377Gln)
NM_005502.4(ABCA1):c.1138G>T (p.Val380Phe)
NM_005502.4(ABCA1):c.1165A>C (p.Thr389Pro) rs775379458
NM_005502.4(ABCA1):c.1300G>A (p.Asp434Asn)
NM_005502.4(ABCA1):c.1312-3C>T
NM_005502.4(ABCA1):c.1394C>T (p.Ala465Val)
NM_005502.4(ABCA1):c.1447A>C (p.Thr483Pro) rs2119009606
NM_005502.4(ABCA1):c.1498C>T (p.Arg500Cys)
NM_005502.4(ABCA1):c.1523A>G (p.Asn508Ser)
NM_005502.4(ABCA1):c.1537A>C (p.Ile513Leu) rs1213172802
NM_005502.4(ABCA1):c.1570A>T (p.Met524Leu)
NM_005502.4(ABCA1):c.1585G>A (p.Glu529Lys)
NM_005502.4(ABCA1):c.1609G>A (p.Val537Met) rs2119006674
NM_005502.4(ABCA1):c.1615A>C (p.Thr539Pro)
NM_005502.4(ABCA1):c.1649A>T (p.His550Leu)
NM_005502.4(ABCA1):c.1664A>C (p.Lys555Thr)
NM_005502.4(ABCA1):c.1679T>C (p.Ile560Thr)
NM_005502.4(ABCA1):c.1708A>C (p.Lys570Gln)
NM_005502.4(ABCA1):c.1715+3A>G rs944318256
NM_005502.4(ABCA1):c.1769G>C (p.Trp590Ser) rs137854496
NM_005502.4(ABCA1):c.1789C>G (p.Gln597Glu) rs771173591
NM_005502.4(ABCA1):c.1849_1850delinsTC (p.Val617Ser) rs2119004064
NM_005502.4(ABCA1):c.1978G>A (p.Val660Met)
NM_005502.4(ABCA1):c.1978G>T (p.Val660Leu)
NM_005502.4(ABCA1):c.2021T>A (p.Met674Lys)
NM_005502.4(ABCA1):c.2149G>A (p.Val717Met)
NM_005502.4(ABCA1):c.2170G>A (p.Val724Met)
NM_005502.4(ABCA1):c.2186C>T (p.Thr729Ile)
NM_005502.4(ABCA1):c.2246G>T (p.Cys749Phe) rs1260761006
NM_005502.4(ABCA1):c.2335G>A (p.Ala779Thr)
NM_005502.4(ABCA1):c.2338-11G>T
NM_005502.4(ABCA1):c.2338-3_2338-2del rs780742201
NM_005502.4(ABCA1):c.2402G>A (p.Gly801Asp) rs2118988044
NM_005502.4(ABCA1):c.253C>T (p.Pro85Ser) rs2119176197
NM_005502.4(ABCA1):c.2557C>T (p.Pro853Ser) rs1159795276
NM_005502.4(ABCA1):c.2736G>A (p.Met912Ile)
NM_005502.4(ABCA1):c.2861C>T (p.Ser954Leu)
NM_005502.4(ABCA1):c.2872T>C (p.Tyr958His)
NM_005502.4(ABCA1):c.2879T>C (p.Leu960Pro)
NM_005502.4(ABCA1):c.2904G>A (p.Met968Ile) rs2118972241
NM_005502.4(ABCA1):c.2904G>T (p.Met968Ile) rs2118972241
NM_005502.4(ABCA1):c.2995C>G (p.Arg999Gly) rs138735406
NM_005502.4(ABCA1):c.2996G>T (p.Arg999Leu)
NM_005502.4(ABCA1):c.302+5G>A
NM_005502.4(ABCA1):c.3081A>C (p.Lys1027Asn)
NM_005502.4(ABCA1):c.3089C>T (p.Thr1030Ile)
NM_005502.4(ABCA1):c.3149G>T (p.Gly1050Val)
NM_005502.4(ABCA1):c.325G>A (p.Ala109Thr)
NM_005502.4(ABCA1):c.3281C>T (p.Ala1094Val)
NM_005502.4(ABCA1):c.3295G>T (p.Asp1099Tyr) rs28933692
NM_005502.4(ABCA1):c.3316C>T (p.His1106Tyr)
NM_005502.4(ABCA1):c.3406G>A (p.Glu1136Lys)
NM_005502.4(ABCA1):c.3409TCC[3] (p.Ser1138_Leu1139insSer)
NM_005502.4(ABCA1):c.3497G>C (p.Gly1166Ala)
NM_005502.4(ABCA1):c.3535G>A (p.Asp1179Asn)
NM_005502.4(ABCA1):c.3554A>G (p.Asn1185Ser) rs148328750
NM_005502.4(ABCA1):c.3589G>A (p.Val1197Met) rs2118952191
NM_005502.4(ABCA1):c.3594A>C (p.Glu1198Asp)
NM_005502.4(ABCA1):c.3626C>T (p.Pro1209Leu)
NM_005502.4(ABCA1):c.3655G>T (p.Val1219Leu) rs1209484368
NM_005502.4(ABCA1):c.3679G>A (p.Asp1227Asn)
NM_005502.4(ABCA1):c.3775G>A (p.Ala1259Thr) rs2118944212
NM_005502.4(ABCA1):c.3815G>A (p.Arg1272Lys) rs2118943294
NM_005502.4(ABCA1):c.3847C>T (p.Arg1283Cys)
NM_005502.4(ABCA1):c.3848G>A (p.Arg1283His)
NM_005502.4(ABCA1):c.3856A>G (p.Thr1286Ala)
NM_005502.4(ABCA1):c.3925A>G (p.Ser1309Gly)
NM_005502.4(ABCA1):c.3945G>T (p.Gly1315=) rs35545593
NM_005502.4(ABCA1):c.3973A>G (p.Thr1325Ala)
NM_005502.4(ABCA1):c.398A>C (p.Gln133Pro)
NM_005502.4(ABCA1):c.4031G>A (p.Arg1344Gln)
NM_005502.4(ABCA1):c.4039T>C (p.Phe1347Leu) rs769840742
NM_005502.4(ABCA1):c.409A>G (p.Lys137Glu)
NM_005502.4(ABCA1):c.4175+4T>A rs753735723
NM_005502.4(ABCA1):c.4186C>T (p.Pro1396Ser) rs2118925023
NM_005502.4(ABCA1):c.4189G>A (p.Glu1397Lys)
NM_005502.4(ABCA1):c.4208A>G (p.Glu1403Gly)
NM_005502.4(ABCA1):c.4218C>A (p.Asn1406Lys)
NM_005502.4(ABCA1):c.4219G>A (p.Ala1407Thr)
NM_005502.4(ABCA1):c.4369C>G (p.Gln1457Glu)
NM_005502.4(ABCA1):c.4373A>G (p.Asn1458Ser)
NM_005502.4(ABCA1):c.4381C>T (p.Pro1461Ser)
NM_005502.4(ABCA1):c.4402G>T (p.Asp1468Tyr)
NM_005502.4(ABCA1):c.4426G>C (p.Val1476Leu) rs1164353101
NM_005502.4(ABCA1):c.4439G>C (p.Gly1480Ala)
NM_005502.4(ABCA1):c.446T>G (p.Val149Gly) rs2119105512
NM_005502.4(ABCA1):c.458C>A (p.Thr153Asn) rs1836411504
NM_005502.4(ABCA1):c.4613G>T (p.Gly1538Val) rs1830392118
NM_005502.4(ABCA1):c.4629A>T (p.Gln1543His) rs1195526722
NM_005502.4(ABCA1):c.4698G>C (p.Lys1566Asn)
NM_005502.4(ABCA1):c.473T>G (p.Leu158Arg) rs2119105441
NM_005502.4(ABCA1):c.4774-3C>G
NM_005502.4(ABCA1):c.4825A>G (p.Ile1609Val)
NM_005502.4(ABCA1):c.4912C>T (p.Leu1638Phe)
NM_005502.4(ABCA1):c.4936G>A (p.Val1646Met) rs2118890064
NM_005502.4(ABCA1):c.4943+6T>A rs2118890017
NM_005502.4(ABCA1):c.5044A>C (p.Ser1682Arg) rs2118884664
NM_005502.4(ABCA1):c.5060T>A (p.Leu1687Gln)
NM_005502.4(ABCA1):c.528T>A (p.Asp176Glu)
NM_005502.4(ABCA1):c.5299T>G (p.Tyr1767Asp) rs1312399680
NM_005502.4(ABCA1):c.5317G>A (p.Val1773Met)
NM_005502.4(ABCA1):c.5377G>A (p.Asp1793Asn)
NM_005502.4(ABCA1):c.5382+4A>G
NM_005502.4(ABCA1):c.5383-3T>C
NM_005502.4(ABCA1):c.5502G>T (p.Arg1834Ser)
NM_005502.4(ABCA1):c.5563G>T (p.Ala1855Ser) rs766712712
NM_005502.4(ABCA1):c.5662C>G (p.Leu1888Val)
NM_005502.4(ABCA1):c.5698C>G (p.Gln1900Glu)
NM_005502.4(ABCA1):c.5753C>T (p.Thr1918Met)
NM_005502.4(ABCA1):c.5758-8T>G rs1829469697
NM_005502.4(ABCA1):c.5761T>C (p.Tyr1921His)
NM_005502.4(ABCA1):c.5852G>A (p.Gly1951Glu)
NM_005502.4(ABCA1):c.5879C>T (p.Thr1960Ile)
NM_005502.4(ABCA1):c.5888C>A (p.Thr1963Asn) rs2118855231
NM_005502.4(ABCA1):c.5924A>G (p.Asn1975Ser)
NM_005502.4(ABCA1):c.5927+3G>A rs781652820
NM_005502.4(ABCA1):c.610A>T (p.Ile204Phe)
NM_005502.4(ABCA1):c.613C>A (p.Gln205Lys)
NM_005502.4(ABCA1):c.664C>A (p.Leu222Met)
NM_005502.4(ABCA1):c.671C>T (p.Ala224Val)
NM_005502.4(ABCA1):c.700G>T (p.Asp234Tyr)
NM_005502.4(ABCA1):c.749C>T (p.Pro250Leu)
NM_005502.4(ABCA1):c.753C>G (p.Ser251Arg)
NM_005502.4(ABCA1):c.793C>T (p.Leu265Phe)
NM_005502.4(ABCA1):c.806C>A (p.Ala269Asp) rs2119052412
NM_005502.4(ABCA1):c.814-4C>A
NM_005502.4(ABCA1):c.845G>A (p.Arg282Gln)
NM_005502.4(ABCA1):c.928G>A (p.Gly310Arg)
NM_005502.4(ABCA1):c.934C>T (p.Pro312Ser) rs1183201615

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