ClinVar Miner

List of variants in gene ABCA3

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 292
Download table as spreadsheet
HGVS dbSNP
NM_001089.2(ABCA3):c.-697G>T rs886051843
NM_001089.2(ABCA3):c.-711C>G rs45583636
NM_001089.3(ABCA3):c.*154C>T
NM_001089.3(ABCA3):c.*155G>A rs189931611
NM_001089.3(ABCA3):c.*192G>A rs572259892
NM_001089.3(ABCA3):c.*1G>A
NM_001089.3(ABCA3):c.*203T>G rs886051807
NM_001089.3(ABCA3):c.*267C>T
NM_001089.3(ABCA3):c.*268G>A rs542352311
NM_001089.3(ABCA3):c.*278G>A rs886051806
NM_001089.3(ABCA3):c.*289G>A
NM_001089.3(ABCA3):c.*312G>T rs79337915
NM_001089.3(ABCA3):c.*379C>T
NM_001089.3(ABCA3):c.*406C>T rs770782338
NM_001089.3(ABCA3):c.*433C>T rs886051805
NM_001089.3(ABCA3):c.*447C>T
NM_001089.3(ABCA3):c.*621C>T rs886051804
NM_001089.3(ABCA3):c.*625A>G
NM_001089.3(ABCA3):c.*689G>A
NM_001089.3(ABCA3):c.*692C>T
NM_001089.3(ABCA3):c.*738C>A
NM_001089.3(ABCA3):c.*8C>T
NM_001089.3(ABCA3):c.*96T>C
NM_001089.3(ABCA3):c.-120C>T rs370407638
NM_001089.3(ABCA3):c.-124C>T rs752906697
NM_001089.3(ABCA3):c.-137C>G
NM_001089.3(ABCA3):c.-169G>A rs323049
NM_001089.3(ABCA3):c.-173C>T rs774331733
NM_001089.3(ABCA3):c.-182C>T rs45518738
NM_001089.3(ABCA3):c.-19C>T
NM_001089.3(ABCA3):c.-236C>G rs323048
NM_001089.3(ABCA3):c.-253G>A rs752927789
NM_001089.3(ABCA3):c.-254C>T rs45442195
NM_001089.3(ABCA3):c.-27+10T>A rs28517480
NM_001089.3(ABCA3):c.-29C>G rs17135880
NM_001089.3(ABCA3):c.-325G>A rs886051835
NM_001089.3(ABCA3):c.-331C>G rs45498101
NM_001089.3(ABCA3):c.-356G>A rs886051836
NM_001089.3(ABCA3):c.-368G>A rs189133667
NM_001089.3(ABCA3):c.-397C>T rs146642275
NM_001089.3(ABCA3):c.-423C>T
NM_001089.3(ABCA3):c.-457C>G
NM_001089.3(ABCA3):c.-463G>A
NM_001089.3(ABCA3):c.-491G>T
NM_001089.3(ABCA3):c.-494C>T rs4146825
NM_001089.3(ABCA3):c.-502C>G rs886051837
NM_001089.3(ABCA3):c.-539+9C>A rs45501400
NM_001089.3(ABCA3):c.-561C>A rs45456893
NM_001089.3(ABCA3):c.-569C>T rs886051838
NM_001089.3(ABCA3):c.-577G>A rs886051839
NM_001089.3(ABCA3):c.-659C>T rs886051840
NM_001089.3(ABCA3):c.-66G>A
NM_001089.3(ABCA3):c.-670C>T rs886051841
NM_001089.3(ABCA3):c.-671T>A rs45451291
NM_001089.3(ABCA3):c.-673C>T rs886051842
NM_001089.3(ABCA3):c.-67C>T rs45487892
NM_001089.3(ABCA3):c.-9A>G rs78286222
NM_001089.3(ABCA3):c.1008C>G (p.Ala336=)
NM_001089.3(ABCA3):c.1059C>T (p.Phe353=) rs13332514
NM_001089.3(ABCA3):c.1088T>C (p.Met363Thr)
NM_001089.3(ABCA3):c.1127C>T (p.Ala376Val)
NM_001089.3(ABCA3):c.1131C>T (p.Phe377=) rs372074938
NM_001089.3(ABCA3):c.1136G>A (p.Gly379Asp)
NM_001089.3(ABCA3):c.1143C>G (p.Leu381=)
NM_001089.3(ABCA3):c.1183C>T (p.Arg395Trp) rs201681616
NM_001089.3(ABCA3):c.1225C>G (p.Leu409Val) rs1567347771
NM_001089.3(ABCA3):c.1232C>A (p.Ser411Tyr) rs993041034
NM_001089.3(ABCA3):c.128G>A (p.Arg43His) rs754714105
NM_001089.3(ABCA3):c.1298A>G (p.Gln433Arg)
NM_001089.3(ABCA3):c.1304G>A (p.Arg435Gln) rs764776501
NM_001089.3(ABCA3):c.1313T>C (p.Leu438Pro) rs761336277
NM_001089.3(ABCA3):c.1336G>A (p.Asp446Asn) rs200803298
NM_001089.3(ABCA3):c.1408A>C (p.Met470Leu)
NM_001089.3(ABCA3):c.1417G>A (p.Val473Ile) rs556996851
NM_001089.3(ABCA3):c.1434C>T (p.Phe478=) rs199642666
NM_001089.3(ABCA3):c.143C>T (p.Ser48Leu) rs763721411
NM_001089.3(ABCA3):c.1465A>T (p.Met489Leu) rs150543946
NM_001089.3(ABCA3):c.1474dup (p.Tyr492fs) rs756855585
NM_001089.3(ABCA3):c.1497G>A (p.Ala499=)
NM_001089.3(ABCA3):c.1502C>A (p.Ala501Glu) rs141621969
NM_001089.3(ABCA3):c.1549G>A (p.Glu517Lys) rs201157181
NM_001089.3(ABCA3):c.1584G>A (p.Ala528=) rs377539769
NM_001089.3(ABCA3):c.1595T>C (p.Ile532Thr)
NM_001089.3(ABCA3):c.1609_1611+4delinsCCA rs876657633
NM_001089.3(ABCA3):c.160G>A (p.Ala54Thr) rs147278907
NM_001089.3(ABCA3):c.1612-9T>C rs886051823
NM_001089.3(ABCA3):c.1645G>A (p.Val549Ile) rs369048340
NM_001089.3(ABCA3):c.1687G>A (p.Val563Ile)
NM_001089.3(ABCA3):c.1702A>G (p.Asn568Asp) rs121909184
NM_001089.3(ABCA3):c.1729_1730del (p.Ser577fs)
NM_001089.3(ABCA3):c.1750C>T (p.Pro584Ser) rs552751331
NM_001089.3(ABCA3):c.1755C>G (p.Pro585=) rs323043
NM_001089.3(ABCA3):c.1766G>A (p.Arg589Gln) rs148843652
NM_001089.3(ABCA3):c.1814G>A (p.Arg605Gln)
NM_001089.3(ABCA3):c.1815G>C (p.Arg605=) rs1596843930
NM_001089.3(ABCA3):c.1857C>T (p.Asp619=)
NM_001089.3(ABCA3):c.1869C>T (p.Val623=) rs145502164
NM_001089.3(ABCA3):c.1871C>T (p.Ala624Val)
NM_001089.3(ABCA3):c.1890C>T (p.Tyr630=)
NM_001089.3(ABCA3):c.1891G>A (p.Ala631Thr) rs139738862
NM_001089.3(ABCA3):c.1896+5del rs886051822
NM_001089.3(ABCA3):c.1897-12del rs886051821
NM_001089.3(ABCA3):c.1897-7G>A rs373611984
NM_001089.3(ABCA3):c.1913G>A (p.Arg638His) rs145269995
NM_001089.3(ABCA3):c.191A>C (p.Glu64Ala) rs886051834
NM_001089.3(ABCA3):c.1939C>T (p.Gln647Ter)
NM_001089.3(ABCA3):c.1960C>G (p.Leu654Val)
NM_001089.3(ABCA3):c.2003G>A (p.Gly668Asp) rs397518427
NM_001089.3(ABCA3):c.2011C>T (p.Arg671Cys)
NM_001089.3(ABCA3):c.2012G>A (p.Arg671His)
NM_001089.3(ABCA3):c.2026G>A (p.Gly676Ser) rs765033572
NM_001089.3(ABCA3):c.2045G>A (p.Gly682Asp) rs886051820
NM_001089.3(ABCA3):c.2052+7C>T
NM_001089.3(ABCA3):c.2053-1G>C rs1596842934
NM_001089.3(ABCA3):c.2078C>T (p.Ser693Leu)
NM_001089.3(ABCA3):c.2086G>A (p.Asp696Asn) rs193920904
NM_001089.3(ABCA3):c.2119C>T (p.Leu707Phe) rs147341939
NM_001089.3(ABCA3):c.2125C>T (p.Arg709Trp) rs148671332
NM_001089.3(ABCA3):c.213C>T (p.Phe71=) rs117515055
NM_001089.3(ABCA3):c.2140C>T (p.Arg714Cys) rs867072001
NM_001089.3(ABCA3):c.2172C>G (p.Asp724Glu)
NM_001089.3(ABCA3):c.2173G>A (p.Glu725Lys)
NM_001089.3(ABCA3):c.2199C>T (p.Ile733=) rs138901284
NM_001089.3(ABCA3):c.2216G>C (p.Gly739Ala)
NM_001089.3(ABCA3):c.2241G>A (p.Ser747=) rs148046277
NM_001089.3(ABCA3):c.2268C>T (p.Ala756=) rs143552557
NM_001089.3(ABCA3):c.2296C>T (p.Pro766Ser) rs45592239
NM_001089.3(ABCA3):c.2309C>T (p.Pro770Leu) rs143929832
NM_001089.3(ABCA3):c.2316C>A (p.Asp772Glu) rs886051819
NM_001089.3(ABCA3):c.2333A>G (p.His778Arg) rs34912779
NM_001089.3(ABCA3):c.233G>C (p.Trp78Ser)
NM_001089.3(ABCA3):c.2340C>T (p.His780=) rs45620539
NM_001089.3(ABCA3):c.2341G>A (p.Val781Met) rs771821923
NM_001089.3(ABCA3):c.2354C>A (p.Thr785Lys) rs371756212
NM_001089.3(ABCA3):c.2411A>G (p.His804Arg) rs747443485
NM_001089.3(ABCA3):c.2415-4T>G rs201775187
NM_001089.3(ABCA3):c.2448G>A (p.Lys816=)
NM_001089.3(ABCA3):c.2467G>C (p.Ala823Pro) rs397518428
NM_001089.3(ABCA3):c.2514-8C>T rs45502600
NM_001089.3(ABCA3):c.2534G>A (p.Ser845Asn)
NM_001089.3(ABCA3):c.2539A>G (p.Met847Val)
NM_001089.3(ABCA3):c.2614A>G (p.Ser872Gly)
NM_001089.3(ABCA3):c.2616C>T (p.Ser872=) rs577301887
NM_001089.3(ABCA3):c.2659C>T (p.Leu887Phe) rs886051817
NM_001089.3(ABCA3):c.265G>A (p.Ala89Thr)
NM_001089.3(ABCA3):c.2675G>A (p.Arg892His) rs142687030
NM_001089.3(ABCA3):c.2679C>T (p.Thr893=) rs199885252
NM_001089.3(ABCA3):c.2796G>A (p.Val932=) rs138500355
NM_001089.3(ABCA3):c.2815C>A (p.Leu939Met) rs1555487703
NM_001089.3(ABCA3):c.2854G>A (p.Asp952Asn) rs144138653
NM_001089.3(ABCA3):c.2856C>T (p.Asp952=)
NM_001089.3(ABCA3):c.2857G>A (p.Asp953Asn)
NM_001089.3(ABCA3):c.2880G>C (p.Leu960Phe) rs1022923684
NM_001089.3(ABCA3):c.2883C>T (p.Gly961=)
NM_001089.3(ABCA3):c.2898C>T (p.Thr966=) rs374605569
NM_001089.3(ABCA3):c.2910C>T (p.Phe970=) rs1596835703
NM_001089.3(ABCA3):c.2965G>A (p.Ala989Thr)
NM_001089.3(ABCA3):c.2994C>T (p.Arg998=) rs748766458
NM_001089.3(ABCA3):c.3003C>T (p.Leu1001=) rs76519389
NM_001089.3(ABCA3):c.3004+15G>A rs746070910
NM_001089.3(ABCA3):c.302T>C (p.Leu101Pro) rs121909182
NM_001089.3(ABCA3):c.3118G>A (p.Ala1040Thr)
NM_001089.3(ABCA3):c.3141C>T (p.Tyr1047=) rs1317615053
NM_001089.3(ABCA3):c.3166G>A (p.Val1056Ile) rs34671771
NM_001089.3(ABCA3):c.3195G>A (p.Leu1065=) rs140502726
NM_001089.3(ABCA3):c.3200G>A (p.Gly1067Glu) rs1567339065
NM_001089.3(ABCA3):c.3207C>T (p.His1069=) rs151260964
NM_001089.3(ABCA3):c.3228C>G (p.Asn1076Lys)
NM_001089.3(ABCA3):c.3231C>T (p.Phe1077=)
NM_001089.3(ABCA3):c.3234C>T (p.Pro1078=)
NM_001089.3(ABCA3):c.3241C>T (p.Arg1081Trp)
NM_001089.3(ABCA3):c.3242G>A (p.Arg1081Gln)
NM_001089.3(ABCA3):c.3278A>G (p.Glu1093Gly)
NM_001089.3(ABCA3):c.3279-4G>A
NM_001089.3(ABCA3):c.3279G>A (p.Glu1093=) rs148535912
NM_001089.3(ABCA3):c.3311T>G (p.Leu1104Arg) rs1555487524
NM_001089.3(ABCA3):c.3312G>T (p.Leu1104=) rs759365467
NM_001089.3(ABCA3):c.3335C>G (p.Ala1112Gly) rs777414202
NM_001089.3(ABCA3):c.3363C>T (p.Ser1121=) rs754199908
NM_001089.3(ABCA3):c.3426G>A (p.Trp1142Ter) rs121909181
NM_001089.3(ABCA3):c.3470G>T (p.Ser1157Ile) rs141635976
NM_001089.3(ABCA3):c.3483+10G>A rs886051813
NM_001089.3(ABCA3):c.3484-4G>T
NM_001089.3(ABCA3):c.3504C>T (p.Asp1168=)
NM_001089.3(ABCA3):c.3540C>T (p.Asp1180=) rs753638942
NM_001089.3(ABCA3):c.3565G>A (p.Gly1189Ser) rs759169167
NM_001089.3(ABCA3):c.3583C>G (p.Leu1195Val)
NM_001089.3(ABCA3):c.3600CTT[3] (p.Phe1203del)
NM_001089.3(ABCA3):c.3602T>A (p.Phe1201Tyr) rs138715261
NM_001089.3(ABCA3):c.3613G>A (p.Gly1205Arg)
NM_001089.3(ABCA3):c.3633G>A (p.Thr1211=)
NM_001089.3(ABCA3):c.3667G>A (p.Ala1223Thr) rs776959824
NM_001089.3(ABCA3):c.3677T>C (p.Leu1226Pro)
NM_001089.3(ABCA3):c.367G>A (p.Asp123Asn) rs145087575
NM_001089.3(ABCA3):c.3705T>A (p.Ala1235=)
NM_001089.3(ABCA3):c.371A>G (p.Asn124Ser) rs142977595
NM_001089.3(ABCA3):c.3784A>G (p.Ser1262Gly) rs35089233
NM_001089.3(ABCA3):c.3796G>C (p.Glu1266Gln) rs778393424
NM_001089.3(ABCA3):c.3841G>A (p.Ala1281Thr) rs141745439
NM_001089.3(ABCA3):c.385G>A (p.Val129Met) rs137924161
NM_001089.3(ABCA3):c.3897C>T (p.Ser1299=) rs147917344
NM_001089.3(ABCA3):c.3905G>A (p.Gly1302Glu)
NM_001089.3(ABCA3):c.3927C>T (p.Ser1309=) rs886051812
NM_001089.3(ABCA3):c.393C>T (p.Ala131=) rs145383120
NM_001089.3(ABCA3):c.3973G>A (p.Glu1325Lys) rs973835010
NM_001089.3(ABCA3):c.397G>A (p.Val133Met) rs201400258
NM_001089.3(ABCA3):c.3984G>T (p.Leu1328=) rs149050142
NM_001089.3(ABCA3):c.4012G>A (p.Ala1338Thr) rs149871856
NM_001089.3(ABCA3):c.4017C>G (p.Leu1339=) rs1158347011
NM_001089.3(ABCA3):c.4027C>T (p.Arg1343Trp) rs375124752
NM_001089.3(ABCA3):c.4085C>T (p.Ala1362Val) rs145251229
NM_001089.3(ABCA3):c.4089C>T (p.Asp1363=)
NM_001089.3(ABCA3):c.4100G>A (p.Arg1367His)
NM_001089.3(ABCA3):c.4105C>T (p.Leu1369=) rs999637490
NM_001089.3(ABCA3):c.4116= (p.Ser1372=)
NM_001089.3(ABCA3):c.4116T>C (p.Ser1372=) rs149532
NM_001089.3(ABCA3):c.4165-14T>C rs114420154
NM_001089.3(ABCA3):c.4165-8G>A rs138769732
NM_001089.3(ABCA3):c.4171G>A (p.Glu1391Lys)
NM_001089.3(ABCA3):c.418A>C (p.Asn140His)
NM_001089.3(ABCA3):c.4206C>G (p.Leu1402=)
NM_001089.3(ABCA3):c.4214C>T (p.Ala1405Val) rs149559041
NM_001089.3(ABCA3):c.4253A>G (p.Asn1418Ser)
NM_001089.3(ABCA3):c.4322T>C (p.Phe1441Ser) rs397518429
NM_001089.3(ABCA3):c.4359+14G>A
NM_001089.3(ABCA3):c.4370G>A (p.Arg1457Gln)
NM_001089.3(ABCA3):c.4386G>A (p.Pro1462=) rs562200919
NM_001089.3(ABCA3):c.4393G>A (p.Asp1465Asn)
NM_001089.3(ABCA3):c.4420C>T (p.Arg1474Trp) rs146709251
NM_001089.3(ABCA3):c.4466G>A (p.Arg1489His) rs557707047
NM_001089.3(ABCA3):c.446C>T (p.Ala149Val) rs145483014
NM_001089.3(ABCA3):c.447+11C>T rs117031141
NM_001089.3(ABCA3):c.447+8G>A
NM_001089.3(ABCA3):c.448-14C>G rs62040683
NM_001089.3(ABCA3):c.4495C>T (p.Leu1499=)
NM_001089.3(ABCA3):c.450G>A (p.Val150=) rs74002800
NM_001089.3(ABCA3):c.4528A>G (p.Lys1510Glu) rs886051811
NM_001089.3(ABCA3):c.4545C>G (p.Tyr1515Ter)
NM_001089.3(ABCA3):c.4547+3G>A rs371055273
NM_001089.3(ABCA3):c.4617C>T (p.Asp1539=) rs369494610
NM_001089.3(ABCA3):c.4642G>A (p.Val1548Met)
NM_001089.3(ABCA3):c.4658T>C (p.Leu1553Pro) rs121909183
NM_001089.3(ABCA3):c.4666A>G (p.Thr1556Ala) rs770958266
NM_001089.3(ABCA3):c.4668C>T (p.Thr1556=) rs727502872
NM_001089.3(ABCA3):c.4682G>A (p.Arg1561Gln)
NM_001089.3(ABCA3):c.4698C>T (p.Ala1566=) rs751040357
NM_001089.3(ABCA3):c.4735G>T (p.Ala1579Ser) rs886051810
NM_001089.3(ABCA3):c.4772A>C (p.Gln1591Pro) rs28936691
NM_001089.3(ABCA3):c.4822G>T (p.Gly1608Cys) rs397518430
NM_001089.3(ABCA3):c.4870C>T (p.Leu1624=)
NM_001089.3(ABCA3):c.4885dup (p.Ala1629fs)
NM_001089.3(ABCA3):c.4896C>G (p.Asp1632Glu) rs886051809
NM_001089.3(ABCA3):c.4909+12C>G
NM_001089.3(ABCA3):c.4909+1G>A rs1567335355
NM_001089.3(ABCA3):c.4944C>T (p.Val1648=) rs142584479
NM_001089.3(ABCA3):c.4964G>A (p.Arg1655His)
NM_001089.3(ABCA3):c.4979C>T (p.Ala1660Val) rs146651498
NM_001089.3(ABCA3):c.5020G>A (p.Gly1674Ser)
NM_001089.3(ABCA3):c.5023G>A (p.Val1675Met) rs182503361
NM_001089.3(ABCA3):c.5038G>A (p.Val1680Met)
NM_001089.3(ABCA3):c.5080C>T (p.His1694Tyr) rs886051808
NM_001089.3(ABCA3):c.5090C>T (p.Pro1697Leu)
NM_001089.3(ABCA3):c.5098G>A (p.Ala1700Thr) rs745625493
NM_001089.3(ABCA3):c.5101G>A (p.Glu1701Lys) rs139954112
NM_001089.3(ABCA3):c.5C>A (p.Ala2Asp) rs148662935
NM_001089.3(ABCA3):c.613G>A (p.Gly205Arg) rs397518426
NM_001089.3(ABCA3):c.614-2A>G rs773223403
NM_001089.3(ABCA3):c.614-9C>T rs45459699
NM_001089.3(ABCA3):c.634C>A (p.Leu212Met) rs139695699
NM_001089.3(ABCA3):c.639C>A (p.Ala213=) rs778504757
NM_001089.3(ABCA3):c.639C>T (p.Ala213=)
NM_001089.3(ABCA3):c.654G>C (p.Val218=) rs886051833
NM_001089.3(ABCA3):c.659G>A (p.Arg220Gln) rs769805747
NM_001089.3(ABCA3):c.681C>T (p.Ala227=) rs45480502
NM_001089.3(ABCA3):c.689C>T (p.Ala230Val) rs148507388
NM_001089.3(ABCA3):c.747G>A (p.Pro249=)
NM_001089.3(ABCA3):c.753C>T (p.Ile251=) rs146161376
NM_001089.3(ABCA3):c.75G>A (p.Thr25=) rs373150694
NM_001089.3(ABCA3):c.762C>A (p.Pro254=)
NM_001089.3(ABCA3):c.817_821del (p.Tyr273fs) rs775903641
NM_001089.3(ABCA3):c.822C>T (p.Thr274=) rs142073032
NM_001089.3(ABCA3):c.824C>T (p.Ala275Val)
NM_001089.3(ABCA3):c.838C>T (p.Arg280Cys) rs201299260
NM_001089.3(ABCA3):c.839G>A (p.Arg280His) rs143008553
NM_001089.3(ABCA3):c.846C>T (p.Val282=) rs149038393
NM_001089.3(ABCA3):c.863G>A (p.Arg288Lys) rs117603931
NM_001089.3(ABCA3):c.873+10C>T rs139685797
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682
NM_001089.3(ABCA3):c.942C>G (p.Leu314=) rs773723001
NM_001089.3(ABCA3):c.954C>T (p.Ile318=) rs35161127
NM_001089.3(ABCA3):c.977T>C (p.Leu326Pro) rs121909185
NM_001089.3(ABCA3):c.990+14C>T rs185179294

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.