ClinVar Miner

List of variants in gene ABCA1 reported as likely benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 543
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HGVS dbSNP gnomAD frequency
NM_005502.4(ABCA1):c.3463-195G>A rs2297402 0.03120
NM_005502.4(ABCA1):c.3463-65G>A rs13292447 0.02045
NM_005502.4(ABCA1):c.3787+43T>C rs111337110 0.01678
NM_005502.4(ABCA1):c.3536-262T>C rs73663553 0.01645
NM_005502.4(ABCA1):c.2656+60T>C rs9282544 0.01528
NM_005502.4(ABCA1):c.1893-204A>G rs114427540 0.01347
NM_005502.4(ABCA1):c.4050+94_4050+95insAATC rs1299463222 0.01291
NM_005502.4(ABCA1):c.4050+97G>A rs997536422 0.01291
NM_005502.4(ABCA1):c.4050+99_4050+104del rs375618866 0.01291
NM_005502.4(ABCA1):c.4593-144C>T rs78101606 0.01203
NM_005502.4(ABCA1):c.4275-91G>A rs41412244 0.01156
NM_005502.4(ABCA1):c.160+26G>A rs150520154 0.01125
NM_005502.4(ABCA1):c.2542+184A>T rs77755970 0.01123
NM_005502.4(ABCA1):c.2868C>T (p.Thr956=) rs35561837 0.01113
NM_005502.4(ABCA1):c.1893-144C>T rs41382749 0.01087
NM_005502.4(ABCA1):c.3787+60T>C rs41410048 0.01086
NM_005502.4(ABCA1):c.1195-28C>T rs73663563 0.01059
NM_005502.4(ABCA1):c.2337+118C>A rs144961952 0.01035
NM_005502.4(ABCA1):c.2829-167C>T rs73519850 0.01019
NM_005502.4(ABCA1):c.1194+140A>T rs9282542 0.01003
NM_005502.4(ABCA1):c.2543-37A>T rs61648534 0.00987
NM_005502.4(ABCA1):c.2828+280G>T rs73663556 0.00979
NM_005502.4(ABCA1):c.2338-94A>G rs78103171 0.00936
NM_005502.4(ABCA1):c.2542+198A>T rs115169715 0.00935
NM_005502.4(ABCA1):c.4464+265C>T rs139322254 0.00915
NM_005502.4(ABCA1):c.1635C>T (p.Ser545=) rs9282539 0.00886
NM_005502.4(ABCA1):c.4774-54C>T rs73663549 0.00802
NM_005502.4(ABCA1):c.421+25C>T rs143894099 0.00757
NM_005502.4(ABCA1):c.3159T>G (p.Val1053=) rs35871586 0.00751
NM_005502.4(ABCA1):c.2961-10C>T rs78329992 0.00749
NM_005502.4(ABCA1):c.5122-216G>C rs118137700 0.00642
NM_005502.4(ABCA1):c.160+56A>G rs73504171 0.00614
NM_005502.4(ABCA1):c.2829-128G>A rs139397024 0.00575
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.4176-53C>T rs41277765 0.00484
NM_005502.4(ABCA1):c.5758-160G>A rs146800165 0.00458
NM_005502.4(ABCA1):c.634T>A (p.Ser212Thr) rs115216814 0.00424
NM_005502.4(ABCA1):c.651A>G (p.Leu217=) rs9282538 0.00399
NM_005502.4(ABCA1):c.67-230C>T rs149654209 0.00370
NM_005502.4(ABCA1):c.1196T>C (p.Val399Ala) rs9282543 0.00352
NM_005502.4(ABCA1):c.2961-104C>T rs150150005 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.2089G>A (p.Ala697Thr) rs114620717 0.00215
NM_005502.4(ABCA1):c.5376C>T (p.Thr1792=) rs13306077 0.00198
NM_005502.4(ABCA1):c.2338-17T>C rs182899836 0.00192
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.254C>T (p.Pro85Leu) rs145183203 0.00121
NM_005502.4(ABCA1):c.3763A>C (p.Ser1255Arg) rs41436749 0.00109
NM_005502.4(ABCA1):c.1977C>T (p.Ile659=) rs34083760 0.00095
NM_005502.4(ABCA1):c.4022G>C (p.Arg1341Thr) rs147743782 0.00085
NM_005502.4(ABCA1):c.720+6T>C rs188308962 0.00081
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.1055-7T>C rs199586194 0.00055
NM_005502.4(ABCA1):c.2115+17C>T rs371944946 0.00054
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.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.3204C>T (p.Arg1068=) rs55814314 0.00028
NM_005502.4(ABCA1):c.2088C>T (p.Ser696=) rs199980051 0.00026
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.1195-8G>A rs201011354 0.00019
NM_005502.4(ABCA1):c.3999G>A (p.Leu1333=) rs183043192 0.00019
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.1765G>A (p.Val589Ile) rs200928212 0.00016
NM_005502.4(ABCA1):c.4155C>T (p.Asn1385=) rs367846898 0.00016
NM_005502.4(ABCA1):c.4773+6C>T rs368667473 0.00016
NM_005502.4(ABCA1):c.5034G>A (p.Gln1678=) rs13306075 0.00015
NM_005502.4(ABCA1):c.1780G>A (p.Ala594Thr) rs199655961 0.00014
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.66+9G>T rs562165874 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.1201A>C (p.Lys401Gln) rs138487227 0.00010
NM_005502.4(ABCA1):c.4764T>C (p.Asn1588=) rs9282547 0.00010
NM_005502.4(ABCA1):c.103A>G (p.Ile35Val) rs138992952 0.00009
NM_005502.4(ABCA1):c.1893-4C>G rs376684614 0.00009
NM_005502.4(ABCA1):c.2811G>A (p.Ala937=) rs147290375 0.00009
NM_005502.4(ABCA1):c.2903T>C (p.Met968Thr) rs776604878 0.00009
NM_005502.4(ABCA1):c.3524C>T (p.Thr1175Met) rs140130551 0.00009
NM_005502.4(ABCA1):c.422-16C>T rs756065458 0.00009
NM_005502.4(ABCA1):c.4699-18G>C rs372139962 0.00009
NM_005502.4(ABCA1):c.1390G>A (p.Val464Met) rs563149622 0.00008
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.3054T>C (p.Asp1018=) rs148278338 0.00008
NM_005502.4(ABCA1):c.3286G>A (p.Val1096Ile) rs13306073 0.00008
NM_005502.4(ABCA1):c.720+12T>C rs774118431 0.00008
NM_005502.4(ABCA1):c.1509+15_1509+17del rs555189556 0.00007
NM_005502.4(ABCA1):c.1913G>A (p.Arg638Gln) rs374190304 0.00007
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.1467C>T (p.Asn489=) rs142342160 0.00006
NM_005502.4(ABCA1):c.161-12C>G rs201555773 0.00006
NM_005502.4(ABCA1):c.1997G>A (p.Arg666Gln) rs142374413 0.00006
NM_005502.4(ABCA1):c.2601C>T (p.Gly867=) rs143963691 0.00006
NM_005502.4(ABCA1):c.3144C>T (p.Val1048=) rs376835934 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.5757+12C>T rs769533549 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.3739-12C>G rs948256390 0.00004
NM_005502.4(ABCA1):c.4222C>T (p.Leu1408Phe) rs201879964 0.00004
NM_005502.4(ABCA1):c.4274+14T>C rs781049063 0.00004
NM_005502.4(ABCA1):c.4280C>T (p.Thr1427Met) rs199544035 0.00004
NM_005502.4(ABCA1):c.45C>T (p.Leu15=) rs137892737 0.00004
NM_005502.4(ABCA1):c.551T>C (p.Leu184Ser) rs141420090 0.00004
NM_005502.4(ABCA1):c.-26A>C rs199976989 0.00003
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.2996G>A (p.Arg999His) rs150371991 0.00003
NM_005502.4(ABCA1):c.302+17G>T rs367919230 0.00003
NM_005502.4(ABCA1):c.3515A>G (p.Glu1172Gly) rs142877738 0.00003
NM_005502.4(ABCA1):c.3526C>G (p.Leu1176Val) rs771515027 0.00003
NM_005502.4(ABCA1):c.3826G>A (p.Gly1276Arg) rs755256833 0.00003
NM_005502.4(ABCA1):c.4773+8G>A rs199877059 0.00003
NM_005502.4(ABCA1):c.489T>C (p.Ser163=) rs747301581 0.00003
NM_005502.4(ABCA1):c.5382+9T>C rs1213961305 0.00003
NM_005502.4(ABCA1):c.664C>T (p.Leu222=) rs778130619 0.00003
NM_005502.4(ABCA1):c.725C>G (p.Thr242Arg) rs775987152 0.00003
NM_005502.4(ABCA1):c.1764C>T (p.Tyr588=) rs769424041 0.00002
NM_005502.4(ABCA1):c.3103+3G>A rs758322157 0.00002
NM_005502.4(ABCA1):c.4050+8G>A rs371581830 0.00002
NM_005502.4(ABCA1):c.4161G>A (p.Gln1387=) rs200409979 0.00002
NM_005502.4(ABCA1):c.927C>T (p.Cys309=) rs566973265 0.00002
NM_005502.4(ABCA1):c.1029T>C (p.Ala343=) rs752777276 0.00001
NM_005502.4(ABCA1):c.1038C>G (p.Phe346Leu) rs371447248 0.00001
NM_005502.4(ABCA1):c.1194+8G>T rs762508711 0.00001
NM_005502.4(ABCA1):c.1200C>T (p.Asn400=) rs763882683 0.00001
NM_005502.4(ABCA1):c.1365C>G (p.Gly455=) rs760973153 0.00001
NM_005502.4(ABCA1):c.1662C>T (p.Tyr554=) rs758817369 0.00001
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.2678C>T (p.Thr893Ile) rs758107854 0.00001
NM_005502.4(ABCA1):c.2694C>T (p.Gly898=) rs199596062 0.00001
NM_005502.4(ABCA1):c.3507C>T (p.Ser1169=) rs375992169 0.00001
NM_005502.4(ABCA1):c.3603G>A (p.Gly1201=) rs201696650 0.00001
NM_005502.4(ABCA1):c.3726G>A (p.Thr1242=) rs548468204 0.00001
NM_005502.4(ABCA1):c.3851C>T (p.Pro1284Leu) rs763149283 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.423C>T (p.Asn141=) rs1481675439 0.00001
NM_005502.4(ABCA1):c.4278C>T (p.Asp1426=) rs1042205538 0.00001
NM_005502.4(ABCA1):c.4320A>G (p.Pro1440=) rs779634773 0.00001
NM_005502.4(ABCA1):c.4482A>G (p.Ala1494=) rs1250688041 0.00001
NM_005502.4(ABCA1):c.4593-7C>A rs376463469 0.00001
NM_005502.4(ABCA1):c.4617C>T (p.Val1539=) rs374389503 0.00001
NM_005502.4(ABCA1):c.497A>G (p.Lys166Arg) rs377248142 0.00001
NM_005502.4(ABCA1):c.5362C>T (p.Leu1788=) rs749921908 0.00001
NM_005502.4(ABCA1):c.5383-14_5383-13insC rs753262922 0.00001
NM_005502.4(ABCA1):c.1008C>G (p.Gly336=)
NM_005502.4(ABCA1):c.1054+14C>G
NM_005502.4(ABCA1):c.1055-13_1055-11del
NM_005502.4(ABCA1):c.1055-16C>G
NM_005502.4(ABCA1):c.1055-18C>T
NM_005502.4(ABCA1):c.1071T>C (p.Asp357=)
NM_005502.4(ABCA1):c.1074G>A (p.Leu358=)
NM_005502.4(ABCA1):c.1089G>A (p.Glu363=)
NM_005502.4(ABCA1):c.1098T>C (p.Pro366=)
NM_005502.4(ABCA1):c.1125G>C (p.Leu375=)
NM_005502.4(ABCA1):c.1131G>A (p.Pro377=)
NM_005502.4(ABCA1):c.1137C>T (p.Leu379=)
NM_005502.4(ABCA1):c.1138G>A (p.Val380Ile)
NM_005502.4(ABCA1):c.1140T>C (p.Val380=)
NM_005502.4(ABCA1):c.1191T>C (p.Ala397=)
NM_005502.4(ABCA1):c.1194+12C>T
NM_005502.4(ABCA1):c.1194+15G>C
NM_005502.4(ABCA1):c.1195-14_1195-13delinsTT rs2119023244
NM_005502.4(ABCA1):c.1195-19G>T rs767459609
NM_005502.4(ABCA1):c.120C>A (p.Ile40=)
NM_005502.4(ABCA1):c.1218G>A (p.Leu406=)
NM_005502.4(ABCA1):c.1230T>C (p.His410=)
NM_005502.4(ABCA1):c.1234C>T (p.Leu412=)
NM_005502.4(ABCA1):c.123T>C (p.Ser41=)
NM_005502.4(ABCA1):c.1286A>G (p.Asn429Ser)
NM_005502.4(ABCA1):c.1302C>T (p.Asp434=) rs372030899
NM_005502.4(ABCA1):c.1308C>G (p.Val436=)
NM_005502.4(ABCA1):c.1312-16C>T
NM_005502.4(ABCA1):c.1312-17T>A
NM_005502.4(ABCA1):c.1312-19T>C
NM_005502.4(ABCA1):c.1331A>C (p.Asp444Ala)
NM_005502.4(ABCA1):c.1335T>C (p.Asn445=)
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.1385A>G (p.Asp462Gly)
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.1441G>T (p.Val481Leu)
NM_005502.4(ABCA1):c.1461T>G (p.Ala487=)
NM_005502.4(ABCA1):c.1491C>T (p.Thr497=)
NM_005502.4(ABCA1):c.1510-13G>A
NM_005502.4(ABCA1):c.1510-6T>C
NM_005502.4(ABCA1):c.1518C>T (p.Asn506=)
NM_005502.4(ABCA1):c.1587G>A (p.Glu529=)
NM_005502.4(ABCA1):c.1620A>C (p.Gly540=)
NM_005502.4(ABCA1):c.1620A>T (p.Gly540=)
NM_005502.4(ABCA1):c.1634G>A (p.Ser545Asn)
NM_005502.4(ABCA1):c.1641G>A (p.Glu547=)
NM_005502.4(ABCA1):c.1647C>G (p.Pro549=)
NM_005502.4(ABCA1):c.1695G>A (p.Arg565=)
NM_005502.4(ABCA1):c.1701T>C (p.Asn567=)
NM_005502.4(ABCA1):c.1715+12C>G
NM_005502.4(ABCA1):c.1715+16T>A
NM_005502.4(ABCA1):c.1715+20A>G
NM_005502.4(ABCA1):c.1716-17C>G rs375275138
NM_005502.4(ABCA1):c.1755C>T (p.Asp585=)
NM_005502.4(ABCA1):c.1779C>T (p.Phe593=)
NM_005502.4(ABCA1):c.1833C>T (p.Thr611=)
NM_005502.4(ABCA1):c.1881C>T (p.Tyr627=)
NM_005502.4(ABCA1):c.1896T>C (p.Phe632=)
NM_005502.4(ABCA1):c.1917A>C (p.Ser639=)
NM_005502.4(ABCA1):c.1935G>A (p.Thr645=)
NM_005502.4(ABCA1):c.1941C>A (p.Ala647=)
NM_005502.4(ABCA1):c.2001G>C (p.Leu667=)
NM_005502.4(ABCA1):c.2010C>G (p.Thr670=)
NM_005502.4(ABCA1):c.201T>A (p.Leu67=)
NM_005502.4(ABCA1):c.2020A>C (p.Met674Leu)
NM_005502.4(ABCA1):c.2034C>T (p.Asn678=)
NM_005502.4(ABCA1):c.2043C>G (p.Leu681=)
NM_005502.4(ABCA1):c.2098C>T (p.Leu700=)
NM_005502.4(ABCA1):c.2109C>T (p.Ile703=)
NM_005502.4(ABCA1):c.2115+18G>A
NM_005502.4(ABCA1):c.2115+84del rs559207960
NM_005502.4(ABCA1):c.2116-16G>A rs376099791
NM_005502.4(ABCA1):c.2128C>T (p.Leu710=)
NM_005502.4(ABCA1):c.2130G>C (p.Leu710=) rs2118992109
NM_005502.4(ABCA1):c.2148C>T (p.Ser716=)
NM_005502.4(ABCA1):c.2169C>T (p.Ser723=)
NM_005502.4(ABCA1):c.2181G>T (p.Val727=)
NM_005502.4(ABCA1):c.2190C>A (p.Ile730=)
NM_005502.4(ABCA1):c.2191C>T (p.Leu731=)
NM_005502.4(ABCA1):c.2217C>A (p.Leu739=)
NM_005502.4(ABCA1):c.2217C>G (p.Leu739=)
NM_005502.4(ABCA1):c.2223C>T (p.Ser741=)
NM_005502.4(ABCA1):c.2268G>A (p.Thr756=)
NM_005502.4(ABCA1):c.228T>C (p.Asn76=)
NM_005502.4(ABCA1):c.2311G>C (p.Val771Leu) rs2066718
NM_005502.4(ABCA1):c.2334C>T (p.Phe778=)
NM_005502.4(ABCA1):c.2337+13G>A
NM_005502.4(ABCA1):c.234C>T (p.Asn78=)
NM_005502.4(ABCA1):c.2352T>G (p.Pro784=)
NM_005502.4(ABCA1):c.2364G>A (p.Gly788=)
NM_005502.4(ABCA1):c.2364G>T (p.Gly788=)
NM_005502.4(ABCA1):c.2382T>C (p.Phe794=)
NM_005502.4(ABCA1):c.2409A>C (p.Gly803=)
NM_005502.4(ABCA1):c.2419G>A (p.Asp807Asn)
NM_005502.4(ABCA1):c.243T>C (p.Cys81=)
NM_005502.4(ABCA1):c.2471C>T (p.Ser824Leu)
NM_005502.4(ABCA1):c.2472G>A (p.Ser824=) rs533413438
NM_005502.4(ABCA1):c.2472G>T (p.Ser824=)
NM_005502.4(ABCA1):c.2478C>T (p.Ser826=)
NM_005502.4(ABCA1):c.2543-18C>T
NM_005502.4(ABCA1):c.2543-20dup
NM_005502.4(ABCA1):c.2550C>T (p.Tyr850=)
NM_005502.4(ABCA1):c.2562G>A (p.Arg854=)
NM_005502.4(ABCA1):c.2599G>A (p.Gly867Ser)
NM_005502.4(ABCA1):c.2604G>A (p.Glu868=) rs1482520924
NM_005502.4(ABCA1):c.2647A>G (p.Ile883Val)
NM_005502.4(ABCA1):c.2656+15C>T
NM_005502.4(ABCA1):c.2656+7G>A
NM_005502.4(ABCA1):c.2657-15T>C
NM_005502.4(ABCA1):c.2657-17C>T
NM_005502.4(ABCA1):c.2657-75G>A rs12344156
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.2811G>C (p.Ala937=) rs147290375
NM_005502.4(ABCA1):c.2820G>A (p.Thr940=)
NM_005502.4(ABCA1):c.2820G>T (p.Thr940=)
NM_005502.4(ABCA1):c.2823C>T (p.Thr941=)
NM_005502.4(ABCA1):c.2828+14_2828+18del
NM_005502.4(ABCA1):c.2829-18C>T
NM_005502.4(ABCA1):c.2841C>T (p.Thr947=)
NM_005502.4(ABCA1):c.2850C>T (p.Phe950=)
NM_005502.4(ABCA1):c.2856G>A (p.Pro952=)
NM_005502.4(ABCA1):c.2859C>T (p.Thr953=)
NM_005502.4(ABCA1):c.2865C>G (p.Gly955=)
NM_005502.4(ABCA1):c.2865C>T (p.Gly955=)
NM_005502.4(ABCA1):c.2871C>T (p.Ala957=)
NM_005502.4(ABCA1):c.2877C>T (p.Ile959=)
NM_005502.4(ABCA1):c.2880G>A (p.Leu960=)
NM_005502.4(ABCA1):c.288C>T (p.Asn96=)
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.2961-11C>A
NM_005502.4(ABCA1):c.2961-5C>T
NM_005502.4(ABCA1):c.2964G>A (p.Leu988=) rs2118966654
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.303-18T>A
NM_005502.4(ABCA1):c.303-42_303-5dup rs539194794
NM_005502.4(ABCA1):c.303-9C>G
NM_005502.4(ABCA1):c.3030G>A (p.Ala1010=)
NM_005502.4(ABCA1):c.3036G>A (p.Met1012Ile)
NM_005502.4(ABCA1):c.3048C>T (p.Ala1016=) rs2118966484
NM_005502.4(ABCA1):c.3049C>T (p.Leu1017=)
NM_005502.4(ABCA1):c.3066A>G (p.Pro1022=)
NM_005502.4(ABCA1):c.3103+9del rs2118966233
NM_005502.4(ABCA1):c.3123A>G (p.Leu1041=)
NM_005502.4(ABCA1):c.3144C>A (p.Val1048=)
NM_005502.4(ABCA1):c.3180A>G (p.Thr1060=)
NM_005502.4(ABCA1):c.3234C>T (p.Tyr1078=)
NM_005502.4(ABCA1):c.3241+51del rs555252993
NM_005502.4(ABCA1):c.3241+7G>A
NM_005502.4(ABCA1):c.3249C>G (p.Thr1083=)
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.3288C>T (p.Val1096=)
NM_005502.4(ABCA1):c.328C>T (p.Arg110Trp)
NM_005502.4(ABCA1):c.3366G>A (p.Leu1122=) rs2118961732
NM_005502.4(ABCA1):c.336T>C (p.Leu112=)
NM_005502.4(ABCA1):c.3411C>T (p.Ser1137=)
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.3504C>G (p.Gly1168=)
NM_005502.4(ABCA1):c.3504C>T (p.Gly1168=)
NM_005502.4(ABCA1):c.3525G>A (p.Thr1175=)
NM_005502.4(ABCA1):c.3536-10G>T
NM_005502.4(ABCA1):c.3536-4G>A
NM_005502.4(ABCA1):c.3554A>G (p.Asn1185Ser) rs148328750
NM_005502.4(ABCA1):c.3555C>A (p.Asn1185Lys)
NM_005502.4(ABCA1):c.357C>A (p.Asp119Glu) rs763744498
NM_005502.4(ABCA1):c.357C>T (p.Asp119=)
NM_005502.4(ABCA1):c.3584G>A (p.Arg1195Gln)
NM_005502.4(ABCA1):c.3585G>C (p.Arg1195=) rs746126743
NM_005502.4(ABCA1):c.3606T>C (p.His1202=)
NM_005502.4(ABCA1):c.3609G>A (p.Glu1203=)
NM_005502.4(ABCA1):c.3627A>G (p.Pro1209=)
NM_005502.4(ABCA1):c.3651C>A (p.Ala1217=)
NM_005502.4(ABCA1):c.3683G>A (p.Arg1228Gln)
NM_005502.4(ABCA1):c.3687C>T (p.Leu1229=)
NM_005502.4(ABCA1):c.3694C>T (p.Leu1232=)
NM_005502.4(ABCA1):c.3738+7T>C rs1266093689
NM_005502.4(ABCA1):c.3756C>G (p.Ala1252=)
NM_005502.4(ABCA1):c.3756C>T (p.Ala1252=)
NM_005502.4(ABCA1):c.3759A>G (p.Glu1253=)
NM_005502.4(ABCA1):c.3771G>A (p.Val1257=)
NM_005502.4(ABCA1):c.3788-13C>T
NM_005502.4(ABCA1):c.3788-19del
NM_005502.4(ABCA1):c.3788-4T>A rs1831529158
NM_005502.4(ABCA1):c.3788-7C>A
NM_005502.4(ABCA1):c.3788-8G>T
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.3863A>G (p.Asp1288Gly) rs1300816547
NM_005502.4(ABCA1):c.3864T>C (p.Asp1288=)
NM_005502.4(ABCA1):c.3879A>G (p.Pro1293=)
NM_005502.4(ABCA1):c.388A>C (p.Arg130=)
NM_005502.4(ABCA1):c.3897C>T (p.Asp1299=)
NM_005502.4(ABCA1):c.3930G>A (p.Gly1310=)
NM_005502.4(ABCA1):c.393A>G (p.Thr131=)
NM_005502.4(ABCA1):c.3975A>G (p.Thr1325=)
NM_005502.4(ABCA1):c.4017T>C (p.Ile1339=)
NM_005502.4(ABCA1):c.4050+19G>A rs375977722
NM_005502.4(ABCA1):c.4050+7C>T
NM_005502.4(ABCA1):c.4167A>G (p.Thr1389=) rs2118930238
NM_005502.4(ABCA1):c.4175+17C>T
NM_005502.4(ABCA1):c.4175+18A>G
NM_005502.4(ABCA1):c.4175+31G>A rs41354653
NM_005502.4(ABCA1):c.4176-5C>T
NM_005502.4(ABCA1):c.4202C>T (p.Thr1401Ile)
NM_005502.4(ABCA1):c.4218C>G (p.Asn1406Lys)
NM_005502.4(ABCA1):c.4227C>T (p.Thr1409=)
NM_005502.4(ABCA1):c.4242C>T (p.Phe1414=)
NM_005502.4(ABCA1):c.4274+10A>C
NM_005502.4(ABCA1):c.4275-17C>A
NM_005502.4(ABCA1):c.4275-225A>C rs79617159
NM_005502.4(ABCA1):c.4281G>C (p.Thr1427=)
NM_005502.4(ABCA1):c.4287C>T (p.Cys1429=) rs769646176
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.4365A>G (p.Thr1455=)
NM_005502.4(ABCA1):c.4377T>C (p.Pro1459=)
NM_005502.4(ABCA1):c.4410C>A (p.Ile1470=)
NM_005502.4(ABCA1):c.4422G>T (p.Leu1474=)
NM_005502.4(ABCA1):c.4464+19G>T
NM_005502.4(ABCA1):c.4488C>A (p.Ile1496=)
NM_005502.4(ABCA1):c.4491T>G (p.Leu1497=)
NM_005502.4(ABCA1):c.4518G>A (p.Ser1506=)
NM_005502.4(ABCA1):c.4527G>A (p.Leu1509=)
NM_005502.4(ABCA1):c.4536G>A (p.Thr1512=) rs41277763
NM_005502.4(ABCA1):c.4536G>T (p.Thr1512=) rs41277763
NM_005502.4(ABCA1):c.4539T>C (p.Tyr1513=)
NM_005502.4(ABCA1):c.4559+12C>T
NM_005502.4(ABCA1):c.4559+9_4559+10del
NM_005502.4(ABCA1):c.4575C>A (p.Ile1525=)
NM_005502.4(ABCA1):c.4587G>A (p.Glu1529=)
NM_005502.4(ABCA1):c.4592+16T>A
NM_005502.4(ABCA1):c.4592+9C>T
NM_005502.4(ABCA1):c.4593-18G>A
NM_005502.4(ABCA1):c.4593G>A (p.Arg1531=)
NM_005502.4(ABCA1):c.4599C>T (p.Gly1533=)
NM_005502.4(ABCA1):c.459C>T (p.Thr153=)
NM_005502.4(ABCA1):c.4602C>T (p.Gly1534=)
NM_005502.4(ABCA1):c.4629A>G (p.Gln1543=)
NM_005502.4(ABCA1):c.4641G>A (p.Pro1547=)
NM_005502.4(ABCA1):c.4659T>A (p.Asp1553Glu)
NM_005502.4(ABCA1):c.467G>T (p.Gly156Val)
NM_005502.4(ABCA1):c.4698+12A>G
NM_005502.4(ABCA1):c.4698+8A>G rs1830384063
NM_005502.4(ABCA1):c.472C>T (p.Leu158=)
NM_005502.4(ABCA1):c.474G>C (p.Leu158=) rs2230805
NM_005502.4(ABCA1):c.4774-14A>G
NM_005502.4(ABCA1):c.4774-156G>C rs115070072
NM_005502.4(ABCA1):c.4774-20C>G rs377626098
NM_005502.4(ABCA1):c.4839T>C (p.Ile1613=)
NM_005502.4(ABCA1):c.4875C>T (p.Ser1625=)
NM_005502.4(ABCA1):c.4905C>T (p.Pro1635=)
NM_005502.4(ABCA1):c.4935G>A (p.Glu1645=)
NM_005502.4(ABCA1):c.4944-15G>A
NM_005502.4(ABCA1):c.4944-15G>C
NM_005502.4(ABCA1):c.4944-16C>T
NM_005502.4(ABCA1):c.4944-18C>T
NM_005502.4(ABCA1):c.4959G>A (p.Val1653=)
NM_005502.4(ABCA1):c.5010C>T (p.Ala1670=)
NM_005502.4(ABCA1):c.5028G>A (p.Leu1676=)
NM_005502.4(ABCA1):c.5037G>A (p.Glu1679=)
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.5109T>C (p.Phe1703=)
NM_005502.4(ABCA1):c.5121+17G>A
NM_005502.4(ABCA1):c.5122-14G>C
NM_005502.4(ABCA1):c.5130C>T (p.Tyr1710=)
NM_005502.4(ABCA1):c.5223A>C (p.Leu1741=)
NM_005502.4(ABCA1):c.5230C>T (p.Leu1744=)
NM_005502.4(ABCA1):c.5256C>T (p.Leu1752=)
NM_005502.4(ABCA1):c.5271C>T (p.Ser1757=) rs2118875728
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.5383-189A>G rs138879566
NM_005502.4(ABCA1):c.5383-20_5383-16dup rs77663187
NM_005502.4(ABCA1):c.5383-4_5383-3del rs77663187
NM_005502.4(ABCA1):c.5397C>A (p.Ile1799=)
NM_005502.4(ABCA1):c.5400T>C (p.Asn1800=) rs2118869377
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.5409G>A (p.Leu1803=)
NM_005502.4(ABCA1):c.5415C>T (p.Ser1805=)
NM_005502.4(ABCA1):c.5418G>A (p.Val1806=) rs1564086475
NM_005502.4(ABCA1):c.543+20T>C
NM_005502.4(ABCA1):c.544-119C>A rs77943163
NM_005502.4(ABCA1):c.5493C>G (p.Ala1831=)
NM_005502.4(ABCA1):c.5496G>A (p.Leu1832=)
NM_005502.4(ABCA1):c.5506+7G>A
NM_005502.4(ABCA1):c.5511G>A (p.Glu1837=)
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.5565C>T (p.Ala1855=)
NM_005502.4(ABCA1):c.5571C>G (p.Ala1857=)
NM_005502.4(ABCA1):c.5571C>T (p.Ala1857=)
NM_005502.4(ABCA1):c.5595C>T (p.Leu1865=)
NM_005502.4(ABCA1):c.5610C>A (p.Ile1870=)
NM_005502.4(ABCA1):c.5628C>T (p.Ile1876=)
NM_005502.4(ABCA1):c.5636+12C>T
NM_005502.4(ABCA1):c.5636+18_5636+30del
NM_005502.4(ABCA1):c.5637-4del rs143321497
NM_005502.4(ABCA1):c.5655A>C (p.Leu1885=)
NM_005502.4(ABCA1):c.5655A>G (p.Leu1885=)
NM_005502.4(ABCA1):c.5689C>T (p.Arg1897Trp)
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.5758-13T>G
NM_005502.4(ABCA1):c.5758-18A>T rs2118859582
NM_005502.4(ABCA1):c.5758-6T>C
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.5821-7T>C
NM_005502.4(ABCA1):c.5925T>C (p.Asn1975=)
NM_005502.4(ABCA1):c.607A>G (p.Met203Val)
NM_005502.4(ABCA1):c.615A>G (p.Gln205=) rs1363470696
NM_005502.4(ABCA1):c.655A>C (p.Arg219=)
NM_005502.4(ABCA1):c.66+20C>T
NM_005502.4(ABCA1):c.66+23C>T
NM_005502.4(ABCA1):c.669T>C (p.Ala223=)
NM_005502.4(ABCA1):c.721-6T>C
NM_005502.4(ABCA1):c.73C>T (p.Leu25=)
NM_005502.4(ABCA1):c.749C>T (p.Pro250Leu)
NM_005502.4(ABCA1):c.750G>A (p.Pro250=)
NM_005502.4(ABCA1):c.75G>C (p.Leu25=)
NM_005502.4(ABCA1):c.784C>T (p.Leu262=)
NM_005502.4(ABCA1):c.813+10G>A
NM_005502.4(ABCA1):c.814-14A>G
NM_005502.4(ABCA1):c.814-6C>T rs377680134
NM_005502.4(ABCA1):c.867C>G (p.Thr289=)
NM_005502.4(ABCA1):c.870T>C (p.Asn290=)
NM_005502.4(ABCA1):c.895C>G (p.Gln299Glu)
NM_005502.4(ABCA1):c.945G>A (p.Gly315=)
NM_005502.4(ABCA1):c.96T>G (p.Pro32=)
NM_005502.4(ABCA1):c.981C>T (p.Asp327=)
NM_005502.4(ABCA1):c.984C>T (p.Asn328=)
NM_005502.4(ABCA1):c.993A>G (p.Lys331=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.