ClinVar Miner

List of variants in gene ABCA3 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 151
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HGVS dbSNP gnomAD frequency
NM_001089.3(ABCA3):c.448-97G>T rs323060 0.98534
NM_001089.3(ABCA3):c.447+119A>G rs323059 0.92207
NM_001089.3(ABCA3):c.614-198T>A rs323064 0.91603
NM_001089.3(ABCA3):c.-26-213A>G rs323056 0.91425
NM_001089.3(ABCA3):c.319+50G>A rs46725 0.84923
NM_001089.3(ABCA3):c.4547+154C>T rs150928 0.74493
NM_001089.3(ABCA3):c.3704-116T>A rs1183064 0.69949
NM_001089.3(ABCA3):c.1741+33A>G rs170447 0.44999
NM_001089.3(ABCA3):c.3004+34C>T rs313909 0.43166
NM_001089.3(ABCA3):c.1742-116T>C rs2240523 0.43002
NM_001089.3(ABCA3):c.4360-130G>A rs2302035 0.30669
NM_001089.3(ABCA3):c.1742-240T>C rs323042 0.30286
NM_001089.3(ABCA3):c.1112-136C>T rs323073 0.30226
NM_001089.3(ABCA3):c.2414+203A>G rs17183533 0.26000
NM_001089.3(ABCA3):c.3278+301A>G rs2014467 0.25926
NM_001089.3(ABCA3):c.1612-227C>A rs4787273 0.25867
NM_001089.3(ABCA3):c.3862+117G>T rs45452892 0.25271
NM_001089.3(ABCA3):c.874-113G>A rs323065 0.17847
NM_001089.3(ABCA3):c.2514-93A>G rs323017 0.15914
NM_001089.3(ABCA3):c.991-105C>A rs323066 0.14482
NM_001089.3(ABCA3):c.1755C>G (p.Pro585=) rs323043 0.14339
NM_001089.3(ABCA3):c.991-20C>T rs13332547 0.12794
NM_001089.3(ABCA3):c.3484-197C>T rs323018 0.12506
NM_001089.3(ABCA3):c.1059C>T (p.Phe353=) rs13332514 0.11601
NM_001089.3(ABCA3):c.1741+198G>A rs114077531 0.08686
NM_001089.3(ABCA3):c.873+310C>A rs143190069 0.04045
NM_001089.3(ABCA3):c.991-41C>G rs45509594 0.03577
NM_001089.3(ABCA3):c.450G>A (p.Val150=) rs74002800 0.03430
NM_001089.3(ABCA3):c.4547+55A>G rs7190259 0.03028
NM_001089.3(ABCA3):c.3483+32C>T rs75808174 0.02544
NM_001089.3(ABCA3):c.873+100T>A rs544363439 0.02377
NM_001089.3(ABCA3):c.2514-8C>T rs45502600 0.02214
NM_001089.3(ABCA3):c.2264-17G>A rs45538638 0.02084
NM_001089.3(ABCA3):c.1285+274G>A rs75450651 0.01938
NM_001089.3(ABCA3):c.2264-64C>T rs112990692 0.01850
NM_001089.3(ABCA3):c.1111+94G>A rs45474095 0.01832
NM_001089.3(ABCA3):c.873+172G>A rs148171587 0.01795
NM_001089.3(ABCA3):c.4984-202C>G rs116411821 0.01749
NM_001089.3(ABCA3):c.4984-313C>G rs45446701 0.01671
NM_001089.3(ABCA3):c.4360-40C>T rs7188263 0.01645
NM_001089.3(ABCA3):c.681C>T (p.Ala227=) rs45480502 0.01632
NM_001089.3(ABCA3):c.613+167C>T rs184260155 0.01564
NM_001089.3(ABCA3):c.1741+137C>T rs45476296 0.01510
NM_001089.3(ABCA3):c.448-14C>G rs62040683 0.01317
NM_001089.3(ABCA3):c.3484-204A>G rs78941105 0.01311
NM_001089.3(ABCA3):c.1742-83_1742-78del rs369986104 0.01287
NM_001089.3(ABCA3):c.320-322C>T rs45498297 0.01267
NM_001089.3(ABCA3):c.873+179C>T rs147081676 0.01267
NM_001089.3(ABCA3):c.4984-92C>G rs11860606 0.01252
NM_001089.3(ABCA3):c.3279-255A>G rs45536034 0.01243
NM_001089.3(ABCA3):c.4983+257G>A rs45593836 0.01226
NM_001089.3(ABCA3):c.1612-173C>T rs45541437 0.01088
NM_001089.3(ABCA3):c.613+97G>T rs116821013 0.01065
NM_001089.3(ABCA3):c.-9A>G rs78286222 0.01064
NM_001089.3(ABCA3):c.613+40T>G rs45517732 0.01007
NM_001089.3(ABCA3):c.2264-268G>A rs114741109 0.00953
NM_001089.3(ABCA3):c.991-84G>A rs34465231 0.00934
NM_001089.3(ABCA3):c.2414+114C>T rs45483992 0.00930
NM_001089.3(ABCA3):c.990+14C>T rs185179294 0.00913
NM_001089.3(ABCA3):c.614-298C>T rs143393181 0.00818
NM_001089.3(ABCA3):c.4165-8G>A rs138769732 0.00753
NM_001089.3(ABCA3):c.-26-251A>G rs45601336 0.00736
NM_001089.3(ABCA3):c.3863-28G>A rs143391325 0.00709
NM_001089.3(ABCA3):c.863G>A (p.Arg288Lys) rs117603931 0.00662
NM_001089.3(ABCA3):c.4035+54T>C rs114801340 0.00634
NM_001089.3(ABCA3):c.2053-65G>A rs147395547 0.00581
NM_001089.3(ABCA3):c.1111+58G>A rs45439892 0.00518
NM_001089.3(ABCA3):c.2053-23C>T rs112851043 0.00438
NM_001089.3(ABCA3):c.320-230A>G rs45460498 0.00415
NM_001089.3(ABCA3):c.4165-70G>A rs71386663 0.00368
NM_001089.3(ABCA3):c.320-80G>T rs45580733 0.00366
NM_001089.3(ABCA3):c.2333A>G (p.His778Arg) rs34912779 0.00365
NM_001089.3(ABCA3):c.1467+71G>C rs79945458 0.00356
NM_001089.3(ABCA3):c.54+51C>T rs34756902 0.00326
NM_001089.3(ABCA3):c.447+200C>T rs45542233 0.00325
NM_001089.3(ABCA3):c.4420C>T (p.Arg1474Trp) rs146709251 0.00308
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682 0.00293
NM_001089.3(ABCA3):c.2309C>T (p.Pro770Leu) rs143929832 0.00242
NM_001089.3(ABCA3):c.613+18G>T rs201364163 0.00175
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.4944C>T (p.Val1648=) rs142584479 0.00160
NM_001089.3(ABCA3):c.839G>A (p.Arg280His) rs143008553 0.00141
NM_001089.3(ABCA3):c.213C>T (p.Phe71=) rs117515055 0.00123
NM_001089.3(ABCA3):c.3784A>G (p.Ser1262Gly) rs35089233 0.00117
NM_001089.3(ABCA3):c.1722C>T (p.Thr574=) rs138939503 0.00091
NM_001089.3(ABCA3):c.160G>A (p.Ala54Thr) rs147278907 0.00075
NM_001089.3(ABCA3):c.2216G>C (p.Gly739Ala) rs150175668 0.00074
NM_001089.3(ABCA3):c.2264-39G>A rs140541746 0.00067
NM_001089.3(ABCA3):c.385G>A (p.Val129Met) rs137924161 0.00061
NM_001089.3(ABCA3):c.873+110G>T rs184755739 0.00059
NM_001089.3(ABCA3):c.1664A>G (p.Asn555Ser) rs147010047 0.00033
NM_001089.3(ABCA3):c.2078C>T (p.Ser693Leu) rs200835546 0.00029
NM_001089.3(ABCA3):c.5020G>A (p.Gly1674Ser) rs202078936 0.00014
NM_001089.3(ABCA3):c.1645G>A (p.Val549Ile) rs369048340 0.00010
NM_001089.3(ABCA3):c.4370G>A (p.Arg1457Gln) rs201226715 0.00010
NM_001089.3(ABCA3):c.1710C>T (p.Ala570=) rs779122152 0.00009
NM_001089.3(ABCA3):c.1600C>T (p.His534Tyr) rs137950456 0.00008
NM_001089.3(ABCA3):c.2704G>A (p.Ala902Thr) rs367680713 0.00008
NM_001089.3(ABCA3):c.4979C>T (p.Ala1660Val) rs146651498 0.00007
NM_001089.3(ABCA3):c.4393G>A (p.Asp1465Asn) rs201955122 0.00006
NM_001089.3(ABCA3):c.3721C>A (p.Leu1241Ile) rs141997453 0.00005
NM_001089.3(ABCA3):c.1814G>A (p.Arg605Gln) rs760006956 0.00004
NM_001089.3(ABCA3):c.-2C>T rs760334694 0.00003
NM_001089.3(ABCA3):c.1325A>G (p.Asn442Ser) rs552628670 0.00003
NM_001089.3(ABCA3):c.2843C>T (p.Ser948Leu) rs561560107 0.00003
NM_001089.3(ABCA3):c.5098G>A (p.Ala1700Thr) rs745625493 0.00003
NM_001089.3(ABCA3):c.1474dup (p.Tyr492fs) rs756855585 0.00002
NM_001089.3(ABCA3):c.1988G>A (p.Arg663His) rs148780137 0.00002
NM_001089.3(ABCA3):c.4327G>A (p.Gly1443Arg) rs764001106 0.00002
NM_001089.3(ABCA3):c.1000A>C (p.Asn334His) rs2093717695 0.00001
NM_001089.3(ABCA3):c.161C>T (p.Ala54Val) rs759790104 0.00001
NM_001089.3(ABCA3):c.1742-9G>A rs2093683792 0.00001
NM_001089.3(ABCA3):c.292C>T (p.Arg98Cys) rs746902527 0.00001
NM_001089.3(ABCA3):c.3863-98C>T rs189077405 0.00001
NM_001089.3(ABCA3):c.4067C>T (p.Pro1356Leu) rs2093655087 0.00001
NM_001089.3(ABCA3):c.4271C>T (p.Thr1424Met) rs369872536 0.00001
NM_001089.3(ABCA3):c.4582G>A (p.Ala1528Thr) rs777637300 0.00001
NM_001089.3(ABCA3):c.629G>T (p.Gly210Val) rs1043865919 0.00001
NM_001089.3(ABCA3):c.115C>G (p.Leu39Val) rs200090198
NM_001089.3(ABCA3):c.1240G>A (p.Ala414Thr) rs1254014649
NM_001089.3(ABCA3):c.1285+138G>A rs323074
NM_001089.3(ABCA3):c.1285+253del rs58682966
NM_001089.3(ABCA3):c.1363A>G (p.Met455Val) rs576740017
NM_001089.3(ABCA3):c.1457T>A (p.Phe486Tyr)
NM_001089.3(ABCA3):c.1502C>A (p.Ala501Glu) rs141621969
NM_001089.3(ABCA3):c.1742-279C>G rs11647731
NM_001089.3(ABCA3):c.1742-72dup rs142017625
NM_001089.3(ABCA3):c.1742-81_1742-78del rs111665931
NM_001089.3(ABCA3):c.1896+179C>G rs323044
NM_001089.3(ABCA3):c.2012G>A (p.Arg671His) rs759555069
NM_001089.3(ABCA3):c.2264-104T>G rs115348225
NM_001089.3(ABCA3):c.2527G>C (p.Val843Leu) rs373224846
NM_001089.3(ABCA3):c.2588G>A (p.Arg863Lys)
NM_001089.3(ABCA3):c.2701-33G>C rs313908
NM_001089.3(ABCA3):c.2761C>G (p.Arg921Gly) rs779429027
NM_001089.3(ABCA3):c.3145T>C (p.Ser1049Pro) rs1460001890
NM_001089.3(ABCA3):c.3467C>T (p.Pro1156Leu)
NM_001089.3(ABCA3):c.3484-138_3484-136del rs45462800
NM_001089.3(ABCA3):c.3914G>A (p.Arg1305Gln) rs368631015
NM_001089.3(ABCA3):c.3997_3998del (p.Arg1333fs) rs2093657764
NM_001089.3(ABCA3):c.4036-298del rs765812169
NM_001089.3(ABCA3):c.4036-313dup rs765812169
NM_001089.3(ABCA3):c.4376G>A (p.Gly1459Asp) rs2505613797
NM_001089.3(ABCA3):c.4421G>A (p.Arg1474Gln)
NM_001089.3(ABCA3):c.448-238A>T rs45466895
NM_001089.3(ABCA3):c.4548-191C>A rs150929
NM_001089.3(ABCA3):c.4719-76C>G rs73500154
NM_001089.3(ABCA3):c.873+246dup rs201129831
NM_001089.3(ABCA3):c.873+84dup rs5815117
NM_001089.3(ABCA3):c.982T>C (p.Cys328Arg)

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