ClinVar Miner

List of variants studied for Interstitial lung disease due to ABCA3 deficiency by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 199
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HGVS dbSNP gnomAD frequency
NM_001089.3(ABCA3):c.1755C>G (p.Pro585=) rs323043 0.14339
NM_001089.3(ABCA3):c.1059C>T (p.Phe353=) rs13332514 0.11601
NM_001089.2(ABCA3):c.-711C>G rs45583636 0.10530
NM_001089.3(ABCA3):c.-561C>A rs45456893 0.10465
NM_001089.3(ABCA3):c.-494C>T rs4146825 0.08190
NM_001089.3(ABCA3):c.-169G>A rs323049 0.08133
NM_001089.3(ABCA3):c.450G>A (p.Val150=) rs74002800 0.03711
NM_001089.3(ABCA3):c.2514-8C>T rs45502600 0.02214
NM_001089.3(ABCA3):c.447+11C>T rs117031141 0.01978
NM_001089.3(ABCA3):c.-539+9C>A rs45501400 0.01933
NM_001089.3(ABCA3):c.-29C>G rs17135880 0.01730
NM_001089.3(ABCA3):c.-27+10T>A rs28517480 0.01729
NM_001089.3(ABCA3):c.-671T>A rs45451291 0.01662
NM_001089.3(ABCA3):c.681C>T (p.Ala227=) rs45480502 0.01639
NM_001089.3(ABCA3):c.448-14C>G rs62040683 0.01376
NM_001089.3(ABCA3):c.990+14C>T rs185179294 0.00913
NM_001089.3(ABCA3):c.4165-8G>A rs138769732 0.00766
NM_001089.3(ABCA3):c.863G>A (p.Arg288Lys) rs117603931 0.00662
NM_001089.3(ABCA3):c.-182C>T rs45518738 0.00580
NM_001089.3(ABCA3):c.-331C>G rs45498101 0.00484
NM_001089.3(ABCA3):c.1869C>T (p.Val623=) rs145502164 0.00403
NM_001089.3(ABCA3):c.614-9C>T rs45459699 0.00387
NM_001089.3(ABCA3):c.-254C>T rs45442195 0.00378
NM_001089.3(ABCA3):c.-67C>T rs45487892 0.00338
NM_001089.3(ABCA3):c.4420C>T (p.Arg1474Trp) rs146709251 0.00308
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682 0.00304
NM_001089.3(ABCA3):c.2309C>T (p.Pro770Leu) rs143929832 0.00242
NM_001089.3(ABCA3):c.-120C>T rs370407638 0.00224
NM_001089.3(ABCA3):c.824C>T (p.Ala275Val) rs148221984 0.00218
NM_001089.3(ABCA3):c.*155G>A rs189931611 0.00215
NM_001089.3(ABCA3):c.-368G>A rs189133667 0.00180
NM_001089.3(ABCA3):c.-397C>T rs146642275 0.00180
NM_001089.3(ABCA3):c.2125C>T (p.Arg709Trp) rs148671332 0.00172
NM_001089.3(ABCA3):c.2296C>T (p.Pro766Ser) rs45592239 0.00170
NM_001089.3(ABCA3):c.2268C>T (p.Ala756=) rs143552557 0.00160
NM_001089.3(ABCA3):c.2340C>T (p.His780=) rs45620539 0.00160
NM_001089.3(ABCA3):c.4944C>T (p.Val1648=) rs142584479 0.00160
NM_001089.3(ABCA3):c.839G>A (p.Arg280His) rs143008553 0.00141
NM_001089.3(ABCA3):c.2796G>A (p.Val932=) rs138500355 0.00120
NM_001089.3(ABCA3):c.3784A>G (p.Ser1262Gly) rs35089233 0.00117
NM_001089.3(ABCA3):c.393C>T (p.Ala131=) rs145383120 0.00106
NM_001089.3(ABCA3):c.-569C>T rs886051838 0.00103
NM_001089.3(ABCA3):c.2119C>T (p.Leu707Phe) rs147341939 0.00092
NM_001089.3(ABCA3):c.4165-14T>C rs114420154 0.00091
NM_001089.3(ABCA3):c.213C>T (p.Phe71=) rs117515055 0.00088
NM_001089.3(ABCA3):c.4909+12C>G rs200753263 0.00086
NM_001089.3(ABCA3):c.371A>G (p.Asn124Ser) rs142977595 0.00084
NM_001089.3(ABCA3):c.2216G>C (p.Gly739Ala) rs150175668 0.00080
NM_001089.3(ABCA3):c.634C>A (p.Leu212Met) rs139695699 0.00077
NM_001089.3(ABCA3):c.822C>T (p.Thr274=) rs142073032 0.00076
NM_001089.3(ABCA3):c.160G>A (p.Ala54Thr) rs147278907 0.00075
NM_001089.3(ABCA3):c.3195G>A (p.Leu1065=) rs140502726 0.00071
NM_001089.3(ABCA3):c.3279G>A (p.Glu1093=) rs148535912 0.00071
NM_001089.3(ABCA3):c.2856C>T (p.Asp952=) rs146956803 0.00066
NM_001089.3(ABCA3):c.2614A>G (p.Ser872Gly) rs151078160 0.00063
NM_001089.3(ABCA3):c.753C>T (p.Ile251=) rs146161376 0.00053
NM_001089.3(ABCA3):c.4012G>A (p.Ala1338Thr) rs149871856 0.00038
NM_001089.3(ABCA3):c.418A>C (p.Asn140His) rs45447801 0.00032
NM_001089.3(ABCA3):c.2078C>T (p.Ser693Leu) rs200835546 0.00029
NM_001089.3(ABCA3):c.3231C>T (p.Phe1077=) rs143240655 0.00029
NM_001089.3(ABCA3):c.367G>A (p.Asp123Asn) rs145087575 0.00029
NM_001089.3(ABCA3):c.-423C>T rs540912900 0.00026
NM_001089.3(ABCA3):c.4085C>T (p.Ala1362Val) rs145251229 0.00026
NM_001089.3(ABCA3):c.1008C>G (p.Ala336=) rs142260648 0.00024
NM_001089.3(ABCA3):c.3234C>T (p.Pro1078=) rs149208294 0.00024
NM_001089.3(ABCA3):c.-137C>G rs373769747 0.00021
NM_001089.3(ABCA3):c.-673C>T rs886051842 0.00021
NM_001089.3(ABCA3):c.3003C>T (p.Leu1001=) rs76519389 0.00020
NM_001089.3(ABCA3):c.873+10C>T rs139685797 0.00020
NM_001089.3(ABCA3):c.4359+14G>A rs372848304 0.00019
NM_001089.3(ABCA3):c.838C>T (p.Arg280Cys) rs201299260 0.00019
NM_001089.3(ABCA3):c.*406C>T rs770782338 0.00018
NM_001089.3(ABCA3):c.*625A>G rs568167293 0.00018
NM_001089.3(ABCA3):c.1960C>G (p.Leu654Val) rs150910102 0.00017
NM_001089.3(ABCA3):c.-253G>A rs752927789 0.00016
NM_001089.3(ABCA3):c.3984G>T (p.Leu1328=) rs149050142 0.00015
NM_001089.3(ABCA3):c.4253A>G (p.Asn1418Ser) rs147036502 0.00014
NM_001089.3(ABCA3):c.1584G>A (p.Ala528=) rs377539769 0.00013
NM_001089.3(ABCA3):c.2857G>A (p.Asp953Asn) rs138092785 0.00012
NM_001089.3(ABCA3):c.2026G>A (p.Gly676Ser) rs765033572 0.00011
NM_001089.3(ABCA3):c.3613G>A (p.Gly1205Arg) rs549977217 0.00011
NM_001089.3(ABCA3):c.747G>A (p.Pro249=) rs139952718 0.00011
NM_001089.3(ABCA3):c.4370G>A (p.Arg1457Gln) rs201226715 0.00010
NM_001089.3(ABCA3):c.5020G>A (p.Gly1674Ser) rs202078936 0.00010
NM_001089.3(ABCA3):c.*268G>A rs542352311 0.00009
NM_001089.3(ABCA3):c.2052+7C>T rs376583358 0.00009
NM_001089.3(ABCA3):c.3207C>T (p.His1069=) rs151260964 0.00009
NM_001089.3(ABCA3):c.3470G>T (p.Ser1157Ile) rs141635976 0.00009
NM_001089.3(ABCA3):c.2994C>T (p.Arg998=) rs748766458 0.00008
NM_001089.3(ABCA3):c.*447C>T rs748576030 0.00007
NM_001089.3(ABCA3):c.2539A>G (p.Met847Val) rs369759665 0.00007
NM_001089.3(ABCA3):c.3004+15G>A rs746070910 0.00007
NM_001089.3(ABCA3):c.3602T>A (p.Phe1201Tyr) rs138715261 0.00007
NM_001089.3(ABCA3):c.397G>A (p.Val133Met) rs201400258 0.00007
NM_001089.3(ABCA3):c.659G>A (p.Arg220Gln) rs769805747 0.00007
NM_001089.3(ABCA3):c.*312G>T rs79337915 0.00006
NM_001089.3(ABCA3):c.3897C>T (p.Ser1299=) rs147917344 0.00006
NM_001089.3(ABCA3):c.4393G>A (p.Asp1465Asn) rs201955122 0.00006
NM_001089.3(ABCA3):c.4682G>A (p.Arg1561Gln) rs373301521 0.00006
NM_001089.3(ABCA3):c.75G>A (p.Thr25=) rs373150694 0.00006
NM_001089.3(ABCA3):c.*154C>T rs1371440517 0.00005
NM_001089.3(ABCA3):c.1336G>A (p.Asp446Asn) rs200803298 0.00005
NM_001089.3(ABCA3):c.3279-4G>A rs377007687 0.00005
NM_001089.3(ABCA3):c.4171G>A (p.Glu1391Lys) rs141744909 0.00005
NM_001089.3(ABCA3):c.4666A>G (p.Thr1556Ala) rs770958266 0.00005
NM_001089.3(ABCA3):c.846C>T (p.Val282=) rs149038393 0.00005
NM_001089.3(ABCA3):c.*192G>A rs572259892 0.00004
NM_001089.3(ABCA3):c.*692C>T rs940944621 0.00004
NM_001089.3(ABCA3):c.1131C>T (p.Phe377=) rs372074938 0.00004
NM_001089.3(ABCA3):c.1143C>G (p.Leu381=) rs766609184 0.00004
NM_001089.3(ABCA3):c.1183C>T (p.Arg395Trp) rs201681616 0.00004
NM_001089.3(ABCA3):c.1304G>A (p.Arg435Gln) rs764776501 0.00004
NM_001089.3(ABCA3):c.1890C>T (p.Tyr630=) rs572101154 0.00004
NM_001089.3(ABCA3):c.2679C>T (p.Thr893=) rs199885252 0.00004
NM_001089.3(ABCA3):c.3667G>A (p.Ala1223Thr) rs776959824 0.00004
NM_001089.3(ABCA3):c.4027C>T (p.Arg1343Trp) rs375124752 0.00004
NM_001089.3(ABCA3):c.4089C>T (p.Asp1363=) rs201762900 0.00004
NM_001089.3(ABCA3):c.4495C>T (p.Leu1499=) rs370726273 0.00004
NM_001089.3(ABCA3):c.5090C>T (p.Pro1697Leu) rs768718547 0.00004
NM_001089.3(ABCA3):c.762C>A (p.Pro254=) rs142938848 0.00004
NM_001089.3(ABCA3):c.942C>G (p.Leu314=) rs773723001 0.00004
NM_001089.3(ABCA3):c.-502C>G rs886051837 0.00003
NM_001089.3(ABCA3):c.1298A>G (p.Gln433Arg) rs758103441 0.00003
NM_001089.3(ABCA3):c.1645G>A (p.Val549Ile) rs369048340 0.00003
NM_001089.3(ABCA3):c.1897-7G>A rs373611984 0.00003
NM_001089.3(ABCA3):c.3242G>A (p.Arg1081Gln) rs565777051 0.00003
NM_001089.3(ABCA3):c.3335C>G (p.Ala1112Gly) rs777414202 0.00003
NM_001089.3(ABCA3):c.5098G>A (p.Ala1700Thr) rs745625493 0.00003
NM_001089.3(ABCA3):c.*203T>G rs886051807 0.00002
NM_001089.3(ABCA3):c.-463G>A rs1280543306 0.00002
NM_001089.3(ABCA3):c.-66G>A rs757794669 0.00002
NM_001089.3(ABCA3):c.1497G>A (p.Ala499=) rs368865276 0.00002
NM_001089.3(ABCA3):c.3540C>T (p.Asp1180=) rs753638942 0.00002
NM_001089.3(ABCA3):c.3565G>A (p.Gly1189Ser) rs759169167 0.00002
NM_001089.3(ABCA3):c.4642G>A (p.Val1548Met) rs760817596 0.00002
NM_001089.3(ABCA3):c.5023G>A (p.Val1675Met) rs182503361 0.00002
NM_001089.2(ABCA3):c.-697G>T rs886051843 0.00001
NM_001089.3(ABCA3):c.*1G>A rs1476467965 0.00001
NM_001089.3(ABCA3):c.*267C>T rs772589481 0.00001
NM_001089.3(ABCA3):c.*289G>A rs962206683 0.00001
NM_001089.3(ABCA3):c.*379C>T rs1034787948 0.00001
NM_001089.3(ABCA3):c.*689G>A rs574838476 0.00001
NM_001089.3(ABCA3):c.*8C>T rs45477097 0.00001
NM_001089.3(ABCA3):c.-124C>T rs752906697 0.00001
NM_001089.3(ABCA3):c.-173C>T rs774331733 0.00001
NM_001089.3(ABCA3):c.-577G>A rs886051839 0.00001
NM_001089.3(ABCA3):c.-659C>T rs886051840 0.00001
NM_001089.3(ABCA3):c.1088T>C (p.Met363Thr) rs1226458501 0.00001
NM_001089.3(ABCA3):c.1612-9T>C rs886051823 0.00001
NM_001089.3(ABCA3):c.1687G>A (p.Val563Ile) rs570927625 0.00001
NM_001089.3(ABCA3):c.1750C>T (p.Pro584Ser) rs552751331 0.00001
NM_001089.3(ABCA3):c.1857C>T (p.Asp619=) rs755482452 0.00001
NM_001089.3(ABCA3):c.2011C>T (p.Arg671Cys) rs183645105 0.00001
NM_001089.3(ABCA3):c.2448G>A (p.Lys816=) rs970709883 0.00001
NM_001089.3(ABCA3):c.3312G>T (p.Leu1104=) rs759365467 0.00001
NM_001089.3(ABCA3):c.3363C>T (p.Ser1121=) rs754199908 0.00001
NM_001089.3(ABCA3):c.3504C>T (p.Asp1168=) rs141725577 0.00001
NM_001089.3(ABCA3):c.4206C>G (p.Leu1402=) rs369224394 0.00001
NM_001089.3(ABCA3):c.4698C>T (p.Ala1566=) rs751040357 0.00001
NM_001089.3(ABCA3):c.4870C>T (p.Leu1624=) rs753648112 0.00001
NM_001089.3(ABCA3):c.4964G>A (p.Arg1655His) rs148823458 0.00001
NM_001089.3(ABCA3):c.5080C>T (p.His1694Tyr) rs886051808 0.00001
NM_001089.3(ABCA3):c.654G>C (p.Val218=) rs886051833 0.00001
NM_001089.3(ABCA3):c.*278G>A rs886051806
NM_001089.3(ABCA3):c.*433C>T rs886051805
NM_001089.3(ABCA3):c.*621C>T rs886051804
NM_001089.3(ABCA3):c.*738C>A rs2093645625
NM_001089.3(ABCA3):c.*96T>C rs557487693
NM_001089.3(ABCA3):c.-19C>T rs934653531
NM_001089.3(ABCA3):c.-236C>G rs323048
NM_001089.3(ABCA3):c.-325G>A rs886051835
NM_001089.3(ABCA3):c.-356G>A rs886051836
NM_001089.3(ABCA3):c.-457C>G rs2093740206
NM_001089.3(ABCA3):c.-491G>T rs2093740258
NM_001089.3(ABCA3):c.-670C>T rs886051841
NM_001089.3(ABCA3):c.1465A>T (p.Met489Leu) rs150543946
NM_001089.3(ABCA3):c.1502C>A (p.Ala501Glu) rs141621969
NM_001089.3(ABCA3):c.1871C>T (p.Ala624Val) rs1567343383
NM_001089.3(ABCA3):c.191A>C (p.Glu64Ala) rs886051834
NM_001089.3(ABCA3):c.2045G>A (p.Gly682Asp) rs886051820
NM_001089.3(ABCA3):c.2172C>G (p.Asp724Glu) rs200855390
NM_001089.3(ABCA3):c.2316C>A (p.Asp772Glu) rs886051819
NM_001089.3(ABCA3):c.2341G>A (p.Val781Met) rs771821923
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) rs150902383
NM_001089.3(ABCA3):c.3118G>A (p.Ala1040Thr) rs1015881697
NM_001089.3(ABCA3):c.3241C>T (p.Arg1081Trp) rs369277188
NM_001089.3(ABCA3):c.3278A>G (p.Glu1093Gly) rs2093663675
NM_001089.3(ABCA3):c.3483+10G>A rs886051813
NM_001089.3(ABCA3):c.3484-4G>T rs761533713
NM_001089.3(ABCA3):c.3583C>G (p.Leu1195Val) rs769069804
NM_001089.3(ABCA3):c.3796G>C (p.Glu1266Gln) rs778393424
NM_001089.3(ABCA3):c.3927C>T (p.Ser1309=) rs886051812
NM_001089.3(ABCA3):c.4528A>G (p.Lys1510Glu) rs886051811
NM_001089.3(ABCA3):c.4735G>T (p.Ala1579Ser) rs886051810
NM_001089.3(ABCA3):c.4896C>G (p.Asp1632Glu) rs886051809
NM_001089.3(ABCA3):c.5038G>A (p.Val1680Met) rs759974464
NM_001089.3(ABCA3):c.639C>T (p.Ala213=) rs778504757

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