ClinVar Miner

List of variants in gene ABCA3 reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_001089.3(ABCA3):c.447+119A>G rs323059 0.91617
NM_001089.3(ABCA3):c.614-198T>A rs323064 0.91603
NM_001089.3(ABCA3):c.-26-213A>G rs323056 0.90783
NM_001089.3(ABCA3):c.319+50G>A rs46725 0.83798
NM_001089.3(ABCA3):c.4547+154C>T rs150928 0.73769
NM_001089.3(ABCA3):c.3704-116T>A rs1183064 0.68864
NM_001089.3(ABCA3):c.1741+33A>G rs170447 0.44738
NM_001089.3(ABCA3):c.3004+34C>T rs313909 0.42967
NM_001089.3(ABCA3):c.1742-116T>C rs2240523 0.42729
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 0.30130
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.3862+117G>T rs45452892 0.25271
NM_001089.3(ABCA3):c.1612-227C>A rs4787273 0.24961
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.3484-197C>T rs323018 0.12687
NM_001089.3(ABCA3):c.991-20C>T rs13332547 0.12151
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.450G>A (p.Val150=) rs74002800 0.03711
NM_001089.3(ABCA3):c.991-41C>G rs45509594 0.03577
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.2514-8C>T rs45502600 0.02214
NM_001089.3(ABCA3):c.2264-64C>T rs112990692 0.02005
NM_001089.3(ABCA3):c.1285+274G>A rs75450651 0.01938
NM_001089.3(ABCA3):c.873+172G>A rs148171587 0.01920
NM_001089.3(ABCA3):c.4360-40C>T rs7188263 0.01772
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.681C>T (p.Ala227=) rs45480502 0.01639
NM_001089.3(ABCA3):c.1741+137C>T rs45476296 0.01616
NM_001089.3(ABCA3):c.990+14C>T rs185179294 0.00913
NM_001089.3(ABCA3):c.2333A>G (p.His778Arg) rs34912779 0.00387
NM_001089.3(ABCA3):c.1285+138G>A rs323074
NM_001089.3(ABCA3):c.1285+253del rs58682966
NM_001089.3(ABCA3):c.1742-279C>G rs11647731
NM_001089.3(ABCA3):c.1742-81_1742-78del rs111665931
NM_001089.3(ABCA3):c.1896+179C>G rs323044
NM_001089.3(ABCA3):c.2701-33G>C rs313908
NM_001089.3(ABCA3):c.3484-138_3484-136del rs45462800
NM_001089.3(ABCA3):c.448-238A>T rs45466895
NM_001089.3(ABCA3):c.448-97G>T rs323060
NM_001089.3(ABCA3):c.4548-191C>A rs150929
NM_001089.3(ABCA3):c.873+246dup rs201129831
NM_001089.3(ABCA3):c.873+84dup rs5815117

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