ClinVar Miner

List of variants in gene ABCA3 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_001089.3(ABCA3):c.873+100T>A rs544363439 0.02377
NM_001089.3(ABCA3):c.2264-17G>A rs45538638 0.02084
NM_001089.3(ABCA3):c.1111+94G>A rs45474095 0.01832
NM_001089.3(ABCA3):c.613+167C>T rs184260155 0.01564
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.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.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.4944C>T (p.Val1648=) rs142584479 0.00160
NM_001089.3(ABCA3):c.213C>T (p.Phe71=) rs117515055 0.00123
NM_001089.3(ABCA3):c.1722C>T (p.Thr574=) rs138939503 0.00091
NM_001089.3(ABCA3):c.2264-39G>A rs140541746 0.00067
NM_001089.3(ABCA3):c.873+110G>T rs184755739 0.00059
NM_001089.3(ABCA3):c.1710C>T (p.Ala570=) rs779122152 0.00009
NM_001089.3(ABCA3):c.1502C>A (p.Ala501Glu) rs141621969
NM_001089.3(ABCA3):c.1742-72dup rs142017625
NM_001089.3(ABCA3):c.2264-104T>G rs115348225
NM_001089.3(ABCA3):c.4036-298del rs765812169
NM_001089.3(ABCA3):c.4036-313dup rs765812169
NM_001089.3(ABCA3):c.4719-76C>G rs73500154

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