ClinVar Miner

List of variants in gene ABCA3 reported by Illumina Clinical Services Laboratory,Illumina

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Gene type:
ClinVar version:
Total variants: 204
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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.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.1131C>T (p.Phe377=) rs372074938
NM_001089.3(ABCA3):c.1143C>G (p.Leu381=)
NM_001089.3(ABCA3):c.1183C>T (p.Arg395Trp) rs201681616
NM_001089.3(ABCA3):c.1298A>G (p.Gln433Arg)
NM_001089.3(ABCA3):c.1304G>A (p.Arg435Gln) rs764776501
NM_001089.3(ABCA3):c.1336G>A (p.Asp446Asn) rs200803298
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.1497G>A (p.Ala499=)
NM_001089.3(ABCA3):c.1502C>A (p.Ala501Glu) rs141621969
NM_001089.3(ABCA3):c.1584G>A (p.Ala528=) rs377539769
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.1750C>T (p.Pro584Ser) rs552751331
NM_001089.3(ABCA3):c.1755C>G (p.Pro585=) rs323043
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.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.191A>C (p.Glu64Ala) rs886051834
NM_001089.3(ABCA3):c.1960C>G (p.Leu654Val)
NM_001089.3(ABCA3):c.2011C>T (p.Arg671Cys)
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.2078C>T (p.Ser693Leu)
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.2172C>G (p.Asp724Glu)
NM_001089.3(ABCA3):c.2199C>T (p.Ile733=) rs138901284
NM_001089.3(ABCA3):c.2216G>C (p.Gly739Ala)
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.2340C>T (p.His780=) rs45620539
NM_001089.3(ABCA3):c.2341G>A (p.Val781Met) rs771821923
NM_001089.3(ABCA3):c.2415-4T>G rs201775187
NM_001089.3(ABCA3):c.2448G>A (p.Lys816=)
NM_001089.3(ABCA3):c.2514-8C>T rs45502600
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.2679C>T (p.Thr893=) rs199885252
NM_001089.3(ABCA3):c.2796G>A (p.Val932=) rs138500355
NM_001089.3(ABCA3):c.2856C>T (p.Asp952=)
NM_001089.3(ABCA3):c.2857G>A (p.Asp953Asn)
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.3118G>A (p.Ala1040Thr)
NM_001089.3(ABCA3):c.3195G>A (p.Leu1065=) rs140502726
NM_001089.3(ABCA3):c.3207C>T (p.His1069=) rs151260964
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.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.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.3602T>A (p.Phe1201Tyr) rs138715261
NM_001089.3(ABCA3):c.3613G>A (p.Gly1205Arg)
NM_001089.3(ABCA3):c.3667G>A (p.Ala1223Thr) rs776959824
NM_001089.3(ABCA3):c.367G>A (p.Asp123Asn) rs145087575
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.3897C>T (p.Ser1299=) rs147917344
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.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.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.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.4253A>G (p.Asn1418Ser)
NM_001089.3(ABCA3):c.4359+14G>A
NM_001089.3(ABCA3):c.4370G>A (p.Arg1457Gln)
NM_001089.3(ABCA3):c.4393G>A (p.Asp1465Asn)
NM_001089.3(ABCA3):c.4420C>T (p.Arg1474Trp) rs146709251
NM_001089.3(ABCA3):c.447+11C>T rs117031141
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.4642G>A (p.Val1548Met)
NM_001089.3(ABCA3):c.4666A>G (p.Thr1556Ala) rs770958266
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.4870C>T (p.Leu1624=)
NM_001089.3(ABCA3):c.4896C>G (p.Asp1632Glu) rs886051809
NM_001089.3(ABCA3):c.4909+12C>G
NM_001089.3(ABCA3):c.4944C>T (p.Val1648=) rs142584479
NM_001089.3(ABCA3):c.4964G>A (p.Arg1655His)
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.614-9C>T rs45459699
NM_001089.3(ABCA3):c.634C>A (p.Leu212Met) rs139695699
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.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.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.990+14C>T rs185179294

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