ClinVar Miner

List of variants in gene ABCA1 reported by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 370
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HGVS dbSNP gnomAD frequency
NM_005502.4(ABCA1):c.4760A>G (p.Lys1587Arg) rs2230808 0.59607
NM_005502.4(ABCA1):c.656G>A (p.Arg219Lys) rs2230806 0.38693
NM_005502.4(ABCA1):c.474G>A (p.Leu158=) rs2230805 0.31320
NM_005502.4(ABCA1):c.2649A>G (p.Ile883Met) rs2066714 0.25557
NM_005502.4(ABCA1):c.2040C>A (p.Ile680=) rs2853579 0.23559
NM_005502.4(ABCA1):c.948G>A (p.Gly316=) rs2246841 0.14663
NM_005502.4(ABCA1):c.936C>T (p.Pro312=) rs2274873 0.09319
NM_005502.4(ABCA1):c.4281G>A (p.Thr1427=) rs2066716 0.08340
NM_005502.4(ABCA1):c.3516G>C (p.Glu1172Asp) rs33918808 0.07360
NM_005502.4(ABCA1):c.3684G>A (p.Arg1228=) rs2230807 0.05833
NM_005502.4(ABCA1):c.2473G>A (p.Val825Ile) rs2066715 0.05456
NM_005502.4(ABCA1):c.3364C>T (p.Leu1122=) rs35204915 0.04423
NM_005502.4(ABCA1):c.3633A>G (p.Glu1211=) rs34788556 0.04127
NM_005502.4(ABCA1):c.5763T>C (p.Tyr1921=) rs34078184 0.03596
NM_005502.4(ABCA1):c.3945G>A (p.Gly1315=) rs35545593 0.02511
NM_005502.4(ABCA1):c.4440G>T (p.Gly1480=) rs41494750 0.02391
NM_005502.4(ABCA1):c.2868C>T (p.Thr956=) rs35561837 0.01113
NM_005502.4(ABCA1):c.1635C>T (p.Ser545=) rs9282539 0.00886
NM_005502.4(ABCA1):c.3159T>G (p.Val1053=) rs35871586 0.00751
NM_005502.4(ABCA1):c.2814G>A (p.Gly938=) rs9282546 0.00556
NM_005502.4(ABCA1):c.2602G>A (p.Glu868Lys) rs35207495 0.00496
NM_005502.4(ABCA1):c.688C>T (p.Arg230Cys) rs9282541 0.00452
NM_005502.4(ABCA1):c.651A>G (p.Leu217=) rs9282538 0.00399
NM_005502.4(ABCA1):c.1530A>G (p.Leu510=) rs34590907 0.00367
NM_005502.4(ABCA1):c.1196T>C (p.Val399Ala) rs9282543 0.00352
NM_005502.4(ABCA1):c.2320A>C (p.Thr774Pro) rs35819696 0.00289
NM_005502.4(ABCA1):c.5774G>A (p.Arg1925Gln) rs142688906 0.00227
NM_005502.4(ABCA1):c.5376C>T (p.Thr1792=) rs13306077 0.00198
NM_005502.4(ABCA1):c.5747A>C (p.Glu1916Ala) rs114719973 0.00175
NM_005502.4(ABCA1):c.2328G>C (p.Lys776Asn) rs138880920 0.00166
NM_005502.4(ABCA1):c.1524C>T (p.Asn508=) rs142239617 0.00160
NM_005502.4(ABCA1):c.2543-3C>T rs139457469 0.00159
NM_005502.4(ABCA1):c.2730T>C (p.Asp910=) rs142473861 0.00145
NM_005502.4(ABCA1):c.3542C>T (p.Ser1181Phe) rs76881554 0.00145
NM_005502.4(ABCA1):c.5301T>C (p.Tyr1767=) rs145246003 0.00141
NM_005502.4(ABCA1):c.1977C>T (p.Ile659=) rs34083760 0.00095
NM_005502.4(ABCA1):c.99A>G (p.Leu33=) rs141151519 0.00060
NM_005502.4(ABCA1):c.126T>C (p.Val42=) rs375663888 0.00049
NM_005502.4(ABCA1):c.3099G>C (p.Leu1033=) rs144726669 0.00046
NM_005502.4(ABCA1):c.5020G>A (p.Val1674Ile) rs138422574 0.00044
NM_005502.4(ABCA1):c.1377A>C (p.Thr459=) rs186911476 0.00035
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.5398A>C (p.Asn1800His) rs146292819 0.00029
NM_005502.4(ABCA1):c.3204C>T (p.Arg1068=) rs55814314 0.00028
NM_005502.4(ABCA1):c.2235G>T (p.Leu745=) rs374418354 0.00026
NM_005502.4(ABCA1):c.1953A>G (p.Ser651=) rs368774156 0.00025
NM_005502.4(ABCA1):c.4197G>A (p.Thr1399=) rs73663551 0.00025
NM_005502.4(ABCA1):c.1028C>T (p.Ala343Val) rs200030513 0.00022
NM_005502.4(ABCA1):c.3999G>A (p.Leu1333=) rs183043192 0.00019
NM_005502.4(ABCA1):c.4155C>T (p.Asn1385=) rs367846898 0.00016
NM_005502.4(ABCA1):c.5034G>A (p.Gln1678=) rs13306075 0.00015
NM_005502.4(ABCA1):c.3768G>A (p.Gly1256=) rs140160885 0.00014
NM_005502.4(ABCA1):c.5649A>G (p.Ala1883=) rs148253245 0.00014
NM_005502.4(ABCA1):c.5019C>T (p.Val1673=) rs371136175 0.00012
NM_005502.4(ABCA1):c.1716G>A (p.Gly572=) rs143299210 0.00011
NM_005502.4(ABCA1):c.1992G>A (p.Glu664=) rs375938870 0.00011
NM_005502.4(ABCA1):c.3567G>A (p.Lys1189=) rs184056207 0.00011
NM_005502.4(ABCA1):c.4764T>C (p.Asn1588=) rs9282547 0.00010
NM_005502.4(ABCA1):c.2811G>A (p.Ala937=) rs147290375 0.00009
NM_005502.4(ABCA1):c.3524C>T (p.Thr1175Met) rs140130551 0.00009
NM_005502.4(ABCA1):c.2283C>T (p.Tyr761=) rs201076284 0.00008
NM_005502.4(ABCA1):c.2910C>T (p.Thr970=) rs142992384 0.00008
NM_005502.4(ABCA1):c.3432C>T (p.Asn1144=) rs559256396 0.00007
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.1467C>T (p.Asn489=) rs142342160 0.00006
NM_005502.4(ABCA1):c.3144C>T (p.Val1048=) rs376835934 0.00006
NM_005502.4(ABCA1):c.5492C>T (p.Ala1831Val) rs753324965 0.00006
NM_005502.4(ABCA1):c.708G>T (p.Leu236=) rs150572064 0.00006
NM_005502.4(ABCA1):c.3831C>T (p.Asp1277=) rs752109871 0.00005
NM_005502.4(ABCA1):c.5316C>T (p.Ser1772=) rs150017407 0.00005
NM_005502.4(ABCA1):c.2196G>A (p.Gln732=) rs187695583 0.00004
NM_005502.4(ABCA1):c.3470G>A (p.Ser1157Asn) rs200664068 0.00004
NM_005502.4(ABCA1):c.360C>T (p.Thr120=) rs771661583 0.00004
NM_005502.4(ABCA1):c.3757G>A (p.Glu1253Lys) rs138056193 0.00004
NM_005502.4(ABCA1):c.4249C>T (p.Arg1417Cys) rs749089795 0.00004
NM_005502.4(ABCA1):c.45C>T (p.Leu15=) rs137892737 0.00004
NM_005502.4(ABCA1):c.1080G>A (p.Lys360=) rs755096584 0.00003
NM_005502.4(ABCA1):c.2970C>T (p.Val990=) rs41277767 0.00003
NM_005502.4(ABCA1):c.3515A>G (p.Glu1172Gly) rs142877738 0.00003
NM_005502.4(ABCA1):c.489T>C (p.Ser163=) rs747301581 0.00003
NM_005502.4(ABCA1):c.4161G>A (p.Gln1387=) rs200409979 0.00002
NM_005502.4(ABCA1):c.5924A>T (p.Asn1975Ile) rs748663329 0.00002
NM_005502.4(ABCA1):c.927C>T (p.Cys309=) rs566973265 0.00002
NM_005502.4(ABCA1):c.1827G>A (p.Thr609=) rs1454126964 0.00001
NM_005502.4(ABCA1):c.2082T>C (p.Leu694=) rs1296884530 0.00001
NM_005502.4(ABCA1):c.2301G>T (p.Trp767Cys) rs780611537 0.00001
NM_005502.4(ABCA1):c.2310C>T (p.Tyr770=) rs1224347266 0.00001
NM_005502.4(ABCA1):c.2355G>T (p.Val785=) rs1355015657 0.00001
NM_005502.4(ABCA1):c.3603G>A (p.Gly1201=) rs201696650 0.00001
NM_005502.4(ABCA1):c.4194C>T (p.Asp1398=) rs752528416 0.00001
NM_005502.4(ABCA1):c.4195A>T (p.Thr1399Ser) rs538614702 0.00001
NM_005502.4(ABCA1):c.4482A>G (p.Ala1494=) rs1250688041 0.00001
NM_005502.4(ABCA1):c.5362C>T (p.Leu1788=) rs749921908 0.00001
NM_005502.4(ABCA1):c.1006G>A (p.Gly336Ser)
NM_005502.4(ABCA1):c.1008C>G (p.Gly336=)
NM_005502.4(ABCA1):c.1040A>G (p.Tyr347Cys)
NM_005502.4(ABCA1):c.1071T>C (p.Asp357=)
NM_005502.4(ABCA1):c.1089G>A (p.Glu363=)
NM_005502.4(ABCA1):c.1091C>A (p.Ser364Tyr)
NM_005502.4(ABCA1):c.1098T>C (p.Pro366=)
NM_005502.4(ABCA1):c.1125G>C (p.Leu375=)
NM_005502.4(ABCA1):c.1137C>T (p.Leu379=)
NM_005502.4(ABCA1):c.1138G>T (p.Val380Phe)
NM_005502.4(ABCA1):c.1145A>G (p.Lys382Arg)
NM_005502.4(ABCA1):c.1172C>A (p.Ala391Asp)
NM_005502.4(ABCA1):c.1191T>C (p.Ala397=)
NM_005502.4(ABCA1):c.1218G>A (p.Leu406=)
NM_005502.4(ABCA1):c.1230T>C (p.His410=)
NM_005502.4(ABCA1):c.123T>C (p.Ser41=)
NM_005502.4(ABCA1):c.1286A>G (p.Asn429Ser)
NM_005502.4(ABCA1):c.128G>A (p.Arg43Gln)
NM_005502.4(ABCA1):c.1302C>T (p.Asp434=) rs372030899
NM_005502.4(ABCA1):c.1329G>C (p.Arg443Ser)
NM_005502.4(ABCA1):c.1333_1338dup (p.Asp446_His447insAsnAsp)
NM_005502.4(ABCA1):c.1338C>G (p.Asp446Glu) rs148314522
NM_005502.4(ABCA1):c.1338C>T (p.Asp446=)
NM_005502.4(ABCA1):c.1344T>C (p.Phe448=)
NM_005502.4(ABCA1):c.1353G>A (p.Gln451=)
NM_005502.4(ABCA1):c.1366T>C (p.Leu456=)
NM_005502.4(ABCA1):c.1371T>C (p.Asp457=)
NM_005502.4(ABCA1):c.1379C>T (p.Ala460Val)
NM_005502.4(ABCA1):c.1389C>T (p.Ile463=)
NM_005502.4(ABCA1):c.1395G>A (p.Ala465=)
NM_005502.4(ABCA1):c.1428C>T (p.Ser476=)
NM_005502.4(ABCA1):c.1435G>C (p.Gly479Arg)
NM_005502.4(ABCA1):c.1442T>G (p.Val481Gly)
NM_005502.4(ABCA1):c.1461T>G (p.Ala487=)
NM_005502.4(ABCA1):c.1468G>A (p.Glu490Lys)
NM_005502.4(ABCA1):c.1477C>G (p.Gln493Glu)
NM_005502.4(ABCA1):c.1492A>G (p.Ile498Val)
NM_005502.4(ABCA1):c.1516A>T (p.Asn506Tyr)
NM_005502.4(ABCA1):c.1587G>A (p.Glu529=)
NM_005502.4(ABCA1):c.1590G>T (p.Arg530Ser)
NM_005502.4(ABCA1):c.1634G>A (p.Ser545Asn)
NM_005502.4(ABCA1):c.1649A>T (p.His550Leu)
NM_005502.4(ABCA1):c.1685A>G (p.Asn562Ser)
NM_005502.4(ABCA1):c.1695G>A (p.Arg565=)
NM_005502.4(ABCA1):c.1771G>C (p.Gly591Arg)
NM_005502.4(ABCA1):c.17A>C (p.Gln6Pro)
NM_005502.4(ABCA1):c.1805A>C (p.Gln602Pro)
NM_005502.4(ABCA1):c.1826C>T (p.Thr609Met)
NM_005502.4(ABCA1):c.1833C>T (p.Thr611=)
NM_005502.4(ABCA1):c.1834G>A (p.Glu612Lys)
NM_005502.4(ABCA1):c.1844C>T (p.Thr615Ile)
NM_005502.4(ABCA1):c.1881C>T (p.Tyr627=)
NM_005502.4(ABCA1):c.1883T>C (p.Val628Ala)
NM_005502.4(ABCA1):c.1896T>C (p.Phe632=)
NM_005502.4(ABCA1):c.1935G>A (p.Thr645=)
NM_005502.4(ABCA1):c.1941C>A (p.Ala647=)
NM_005502.4(ABCA1):c.1960G>A (p.Val654Met)
NM_005502.4(ABCA1):c.2001G>C (p.Leu667=)
NM_005502.4(ABCA1):c.2010C>G (p.Thr670=)
NM_005502.4(ABCA1):c.2034C>T (p.Asn678=)
NM_005502.4(ABCA1):c.2043C>G (p.Leu681=)
NM_005502.4(ABCA1):c.2109C>T (p.Ile703=)
NM_005502.4(ABCA1):c.2128C>T (p.Leu710=)
NM_005502.4(ABCA1):c.2135A>T (p.Tyr712Phe)
NM_005502.4(ABCA1):c.2148C>T (p.Ser716=)
NM_005502.4(ABCA1):c.2149G>A (p.Val717Met)
NM_005502.4(ABCA1):c.2169C>T (p.Ser723=)
NM_005502.4(ABCA1):c.2190C>A (p.Ile730=)
NM_005502.4(ABCA1):c.2217C>G (p.Leu739=)
NM_005502.4(ABCA1):c.2233C>G (p.Leu745Val)
NM_005502.4(ABCA1):c.2249G>A (p.Gly750Glu)
NM_005502.4(ABCA1):c.228T>C (p.Asn76=)
NM_005502.4(ABCA1):c.2296G>T (p.Ala766Ser)
NM_005502.4(ABCA1):c.2311G>A (p.Val771Met) rs2066718
NM_005502.4(ABCA1):c.2315G>A (p.Gly772Asp)
NM_005502.4(ABCA1):c.2315G>C (p.Gly772Ala)
NM_005502.4(ABCA1):c.2324T>A (p.Leu775His)
NM_005502.4(ABCA1):c.2334C>T (p.Phe778=)
NM_005502.4(ABCA1):c.234C>T (p.Asn78=)
NM_005502.4(ABCA1):c.2352T>G (p.Pro784=)
NM_005502.4(ABCA1):c.2359T>G (p.Phe787Val)
NM_005502.4(ABCA1):c.2364G>A (p.Gly788=)
NM_005502.4(ABCA1):c.243T>C (p.Cys81=)
NM_005502.4(ABCA1):c.2472G>A (p.Ser824=) rs533413438
NM_005502.4(ABCA1):c.2472G>T (p.Ser824=)
NM_005502.4(ABCA1):c.2479A>G (p.Met827Val)
NM_005502.4(ABCA1):c.2479A>T (p.Met827Leu)
NM_005502.4(ABCA1):c.2550C>T (p.Tyr850=)
NM_005502.4(ABCA1):c.2562G>T (p.Arg854Ser)
NM_005502.4(ABCA1):c.2647A>G (p.Ile883Val)
NM_005502.4(ABCA1):c.2663T>G (p.Met888Arg)
NM_005502.4(ABCA1):c.2679C>T (p.Thr893=)
NM_005502.4(ABCA1):c.2697G>A (p.Val899=)
NM_005502.4(ABCA1):c.2724C>T (p.Tyr908=)
NM_005502.4(ABCA1):c.273C>T (p.Pro91=)
NM_005502.4(ABCA1):c.2748C>T (p.Val916=)
NM_005502.4(ABCA1):c.2799C>T (p.Gly933=)
NM_005502.4(ABCA1):c.2820G>A (p.Thr940=)
NM_005502.4(ABCA1):c.2823C>T (p.Thr941=)
NM_005502.4(ABCA1):c.2848T>C (p.Phe950Leu)
NM_005502.4(ABCA1):c.2850C>T (p.Phe950=)
NM_005502.4(ABCA1):c.2855C>T (p.Pro952Leu)
NM_005502.4(ABCA1):c.2859C>T (p.Thr953=)
NM_005502.4(ABCA1):c.2861C>T (p.Ser954Leu)
NM_005502.4(ABCA1):c.2865C>G (p.Gly955=)
NM_005502.4(ABCA1):c.2865C>T (p.Gly955=)
NM_005502.4(ABCA1):c.2869G>A (p.Ala957Thr)
NM_005502.4(ABCA1):c.2871C>T (p.Ala957=)
NM_005502.4(ABCA1):c.2877C>T (p.Ile959=)
NM_005502.4(ABCA1):c.288C>T (p.Asn96=)
NM_005502.4(ABCA1):c.2897C>G (p.Ser966Cys)
NM_005502.4(ABCA1):c.28C>T (p.Leu10=)
NM_005502.4(ABCA1):c.2928G>A (p.Gly976=)
NM_005502.4(ABCA1):c.2940G>A (p.Gln980=)
NM_005502.4(ABCA1):c.2946C>T (p.Asn982=)
NM_005502.4(ABCA1):c.2976A>G (p.Glu992=)
NM_005502.4(ABCA1):c.3006G>A (p.Gly1002=)
NM_005502.4(ABCA1):c.3021C>T (p.His1007=)
NM_005502.4(ABCA1):c.3022G>A (p.Val1008Met)
NM_005502.4(ABCA1):c.303-42_303-5dup rs539194794
NM_005502.4(ABCA1):c.3030G>A (p.Ala1010=)
NM_005502.4(ABCA1):c.3055G>A (p.Val1019Ile)
NM_005502.4(ABCA1):c.3066A>G (p.Pro1022=)
NM_005502.4(ABCA1):c.3180A>G (p.Thr1060=)
NM_005502.4(ABCA1):c.3202C>G (p.Arg1068Gly)
NM_005502.4(ABCA1):c.3234C>T (p.Tyr1078=)
NM_005502.4(ABCA1):c.3258C>G (p.Leu1086=)
NM_005502.4(ABCA1):c.3270C>T (p.His1090=)
NM_005502.4(ABCA1):c.3282G>A (p.Ala1094=)
NM_005502.4(ABCA1):c.3285C>T (p.Asp1095=)
NM_005502.4(ABCA1):c.336T>C (p.Leu112=)
NM_005502.4(ABCA1):c.3370A>G (p.Thr1124Ala)
NM_005502.4(ABCA1):c.3408A>C (p.Glu1136Asp)
NM_005502.4(ABCA1):c.3441C>T (p.Ser1147=)
NM_005502.4(ABCA1):c.3450A>G (p.Ser1150=)
NM_005502.4(ABCA1):c.345C>T (p.Tyr115=)
NM_005502.4(ABCA1):c.3462+4A>G
NM_005502.4(ABCA1):c.3470G>C (p.Ser1157Thr)
NM_005502.4(ABCA1):c.3499C>A (p.Leu1167Met)
NM_005502.4(ABCA1):c.3504C>G (p.Gly1168=)
NM_005502.4(ABCA1):c.3545C>T (p.Ala1182Val)
NM_005502.4(ABCA1):c.357C>T (p.Asp119=)
NM_005502.4(ABCA1):c.3605A>G (p.His1202Arg)
NM_005502.4(ABCA1):c.3609G>A (p.Glu1203=)
NM_005502.4(ABCA1):c.362G>C (p.Ser121Thr)
NM_005502.4(ABCA1):c.3635C>G (p.Ala1212Gly)
NM_005502.4(ABCA1):c.3649G>A (p.Ala1217Thr)
NM_005502.4(ABCA1):c.3651C>A (p.Ala1217=)
NM_005502.4(ABCA1):c.3679G>A (p.Asp1227Asn)
NM_005502.4(ABCA1):c.3687C>T (p.Leu1229=)
NM_005502.4(ABCA1):c.3692A>G (p.Asp1231Gly)
NM_005502.4(ABCA1):c.3694C>T (p.Leu1232=)
NM_005502.4(ABCA1):c.3756C>G (p.Ala1252=)
NM_005502.4(ABCA1):c.3756C>T (p.Ala1252=)
NM_005502.4(ABCA1):c.3790G>A (p.Gly1264Ser)
NM_005502.4(ABCA1):c.3825C>T (p.Phe1275=)
NM_005502.4(ABCA1):c.3852G>A (p.Pro1284=)
NM_005502.4(ABCA1):c.3852G>T (p.Pro1284=)
NM_005502.4(ABCA1):c.3866A>G (p.Asp1289Gly)
NM_005502.4(ABCA1):c.3879A>G (p.Pro1293=)
NM_005502.4(ABCA1):c.3892A>T (p.Ile1298Leu)
NM_005502.4(ABCA1):c.3897C>T (p.Asp1299=)
NM_005502.4(ABCA1):c.3912G>T (p.Glu1304Asp)
NM_005502.4(ABCA1):c.393A>G (p.Thr131=)
NM_005502.4(ABCA1):c.3975A>G (p.Thr1325=)
NM_005502.4(ABCA1):c.3994C>G (p.Leu1332Val)
NM_005502.4(ABCA1):c.4017T>C (p.Ile1339=)
NM_005502.4(ABCA1):c.412T>C (p.Ser138Pro)
NM_005502.4(ABCA1):c.4187C>T (p.Pro1396Leu)
NM_005502.4(ABCA1):c.4189G>A (p.Glu1397Lys)
NM_005502.4(ABCA1):c.4242C>T (p.Phe1414=)
NM_005502.4(ABCA1):c.4281G>C (p.Thr1427=)
NM_005502.4(ABCA1):c.4290G>A (p.Gln1430=)
NM_005502.4(ABCA1):c.4302A>G (p.Glu1434=)
NM_005502.4(ABCA1):c.4317C>T (p.Ala1439=)
NM_005502.4(ABCA1):c.4323T>C (p.Val1441=)
NM_005502.4(ABCA1):c.4332C>T (p.Thr1444=)
NM_005502.4(ABCA1):c.4341C>T (p.Asp1447=)
NM_005502.4(ABCA1):c.4377T>C (p.Pro1459=)
NM_005502.4(ABCA1):c.4381C>T (p.Pro1461Ser)
NM_005502.4(ABCA1):c.4385C>T (p.Ala1462Val)
NM_005502.4(ABCA1):c.4410C>A (p.Ile1470=)
NM_005502.4(ABCA1):c.4416G>T (p.Lys1472Asn)
NM_005502.4(ABCA1):c.4433C>T (p.Pro1478Leu)
NM_005502.4(ABCA1):c.4438G>A (p.Gly1480Arg)
NM_005502.4(ABCA1):c.4439G>C (p.Gly1480Ala)
NM_005502.4(ABCA1):c.4471C>G (p.Gln1491Glu)
NM_005502.4(ABCA1):c.4505G>A (p.Gly1502Glu)
NM_005502.4(ABCA1):c.4518G>A (p.Ser1506=)
NM_005502.4(ABCA1):c.4527G>A (p.Leu1509=)
NM_005502.4(ABCA1):c.4536G>T (p.Thr1512=) rs41277763
NM_005502.4(ABCA1):c.4539T>C (p.Tyr1513=)
NM_005502.4(ABCA1):c.4575C>A (p.Ile1525=)
NM_005502.4(ABCA1):c.4587G>A (p.Glu1529=)
NM_005502.4(ABCA1):c.4593G>A (p.Arg1531=)
NM_005502.4(ABCA1):c.4599C>T (p.Gly1533=)
NM_005502.4(ABCA1):c.4629A>G (p.Gln1543=)
NM_005502.4(ABCA1):c.464C>G (p.Ser155Cys)
NM_005502.4(ABCA1):c.4654A>T (p.Asn1552Tyr)
NM_005502.4(ABCA1):c.4665C>G (p.Ile1555Met)
NM_005502.4(ABCA1):c.4675A>C (p.Lys1559Gln)
NM_005502.4(ABCA1):c.472C>T (p.Leu158=)
NM_005502.4(ABCA1):c.474G>C (p.Leu158=) rs2230805
NM_005502.4(ABCA1):c.4754A>G (p.Asp1585Gly)
NM_005502.4(ABCA1):c.4759A>C (p.Lys1587Gln)
NM_005502.4(ABCA1):c.4829A>G (p.Asn1610Ser)
NM_005502.4(ABCA1):c.4839T>C (p.Ile1613=)
NM_005502.4(ABCA1):c.4875C>T (p.Ser1625=)
NM_005502.4(ABCA1):c.4876C>T (p.His1626Tyr)
NM_005502.4(ABCA1):c.4935G>A (p.Glu1645=)
NM_005502.4(ABCA1):c.4959G>A (p.Val1653=)
NM_005502.4(ABCA1):c.4975A>G (p.Ile1659Val)
NM_005502.4(ABCA1):c.4991C>T (p.Ala1664Val)
NM_005502.4(ABCA1):c.5010C>T (p.Ala1670=)
NM_005502.4(ABCA1):c.5024T>A (p.Phe1675Tyr)
NM_005502.4(ABCA1):c.5028G>A (p.Leu1676=)
NM_005502.4(ABCA1):c.5037G>A (p.Glu1679=)
NM_005502.4(ABCA1):c.5046C>A (p.Ser1682Arg)
NM_005502.4(ABCA1):c.5066T>A (p.Phe1689Tyr)
NM_005502.4(ABCA1):c.5079G>A (p.Val1693=)
NM_005502.4(ABCA1):c.5088C>T (p.Val1696=)
NM_005502.4(ABCA1):c.5094C>T (p.Tyr1698=)
NM_005502.4(ABCA1):c.5130C>T (p.Tyr1710=)
NM_005502.4(ABCA1):c.5223A>C (p.Leu1741=)
NM_005502.4(ABCA1):c.528T>A (p.Asp176Glu)
NM_005502.4(ABCA1):c.5313C>T (p.Thr1771=)
NM_005502.4(ABCA1):c.531C>G (p.Val177=)
NM_005502.4(ABCA1):c.5325C>T (p.Leu1775=)
NM_005502.4(ABCA1):c.5346C>T (p.Ser1782=)
NM_005502.4(ABCA1):c.5377G>A (p.Asp1793Asn)
NM_005502.4(ABCA1):c.537C>G (p.Leu179=)
NM_005502.4(ABCA1):c.5406C>A (p.Ile1802=) rs141980942
NM_005502.4(ABCA1):c.5406C>T (p.Ile1802=) rs141980942
NM_005502.4(ABCA1):c.5415C>T (p.Ser1805=)
NM_005502.4(ABCA1):c.5464A>G (p.Met1822Val)
NM_005502.4(ABCA1):c.5468T>G (p.Val1823Gly)
NM_005502.4(ABCA1):c.5470A>G (p.Lys1824Glu)
NM_005502.4(ABCA1):c.5475C>A (p.Asn1825Lys)
NM_005502.4(ABCA1):c.5493C>G (p.Ala1831=)
NM_005502.4(ABCA1):c.5496G>A (p.Leu1832=)
NM_005502.4(ABCA1):c.5520T>C (p.Phe1840=)
NM_005502.4(ABCA1):c.5526A>G (p.Ser1842=)
NM_005502.4(ABCA1):c.5562C>T (p.Phe1854=)
NM_005502.4(ABCA1):c.5563G>T (p.Ala1855Ser) rs766712712
NM_005502.4(ABCA1):c.5565C>T (p.Ala1855=)
NM_005502.4(ABCA1):c.5571C>T (p.Ala1857=)
NM_005502.4(ABCA1):c.5595C>T (p.Leu1865=)
NM_005502.4(ABCA1):c.5606T>G (p.Leu1869Arg)
NM_005502.4(ABCA1):c.5610C>A (p.Ile1870=)
NM_005502.4(ABCA1):c.5628C>T (p.Ile1876=)
NM_005502.4(ABCA1):c.5641G>A (p.Val1881Ile)
NM_005502.4(ABCA1):c.5655A>C (p.Leu1885=)
NM_005502.4(ABCA1):c.5655A>G (p.Leu1885=)
NM_005502.4(ABCA1):c.5709T>C (p.Leu1903=)
NM_005502.4(ABCA1):c.5715T>G (p.Gly1905=)
NM_005502.4(ABCA1):c.5754G>A (p.Thr1918=)
NM_005502.4(ABCA1):c.5761T>C (p.Tyr1921His)
NM_005502.4(ABCA1):c.5799C>T (p.Cys1933=)
NM_005502.4(ABCA1):c.5800G>A (p.Val1934Met)
NM_005502.4(ABCA1):c.580C>T (p.Leu194=)
NM_005502.4(ABCA1):c.5912T>C (p.Phe1971Ser)
NM_005502.4(ABCA1):c.5925T>C (p.Asn1975=)
NM_005502.4(ABCA1):c.607A>G (p.Met203Val)
NM_005502.4(ABCA1):c.669T>C (p.Ala223=)
NM_005502.4(ABCA1):c.712C>G (p.Pro238Ala)
NM_005502.4(ABCA1):c.750G>A (p.Pro250=)
NM_005502.4(ABCA1):c.752G>T (p.Ser251Ile)
NM_005502.4(ABCA1):c.75G>C (p.Leu25=)
NM_005502.4(ABCA1):c.778A>G (p.Thr260Ala)
NM_005502.4(ABCA1):c.867C>G (p.Thr289=)
NM_005502.4(ABCA1):c.870T>C (p.Asn290=)
NM_005502.4(ABCA1):c.877A>G (p.Ser293Gly)
NM_005502.4(ABCA1):c.8G>T (p.Cys3Phe)
NM_005502.4(ABCA1):c.945G>A (p.Gly315=)
NM_005502.4(ABCA1):c.96T>G (p.Pro32=)

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