ClinVar Miner

List of variants reported as benign for Tangier disease

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_005502.4(ABCA1):c.6401+86C>A rs2740485 0.90863
NM_005502.4(ABCA1):c.4559+30G>T rs2777801 0.85910
NM_005502.4(ABCA1):c.*1896G>A rs363717 0.85223
NM_005502.3(ABCA1):c.-412C>G rs2740483 0.75082
NM_005502.4(ABCA1):c.4760A>G (p.Lys1587Arg) rs2230808 0.59607
NM_005502.4(ABCA1):c.656G>A (p.Arg219Lys) rs2230806 0.38693
NM_005502.3(ABCA1):c.-327C>T rs1800977 0.33764
NM_005502.4(ABCA1):c.*693C>T rs4149338 0.33123
NM_005502.4(ABCA1):c.*1440C>T rs4149339 0.32445
NM_005502.4(ABCA1):c.474G>A (p.Leu158=) rs2230805 0.31320
NM_005502.4(ABCA1):c.2649A>G (p.Ile883Met) rs2066714 0.25557
NM_005502.4(ABCA1):c.5927+18T>C rs2020927 0.24332
NM_005502.4(ABCA1):c.2040C>A (p.Ile680=) rs2853579 0.23559
NM_005502.4(ABCA1):c.948G>A (p.Gly316=) rs2246841 0.14663
NM_005502.4(ABCA1):c.*2311A>G rs4149341 0.14582
NM_005502.4(ABCA1):c.814-14dup rs2067484 0.10846
NM_005502.4(ABCA1):c.-18G>C rs1800978 0.09771
NM_005502.4(ABCA1):c.936C>T (p.Pro312=) rs2274873 0.09319
NM_005502.4(ABCA1):c.4281G>A (p.Thr1427=) rs2066716 0.08340
NM_005502.4(ABCA1):c.6183C>T (p.Gly2061=) rs9282537 0.08299
NM_005502.4(ABCA1):c.3516G>C (p.Glu1172Asp) rs33918808 0.07360
NM_005502.4(ABCA1):c.1195-13C>T rs2297399 0.05862
NM_005502.4(ABCA1):c.3684G>A (p.Arg1228=) rs2230807 0.05833
NM_005502.4(ABCA1):c.*395T>A rs73517870 0.05814
NM_005502.4(ABCA1):c.*1653T>A rs41432545 0.05774
NM_005502.4(ABCA1):c.2473G>A (p.Val825Ile) rs2066715 0.05456
NM_005502.4(ABCA1):c.6401+13A>G rs2066881 0.04938
NM_005502.4(ABCA1):c.3364C>T (p.Leu1122=) rs35204915 0.04423
NM_005502.4(ABCA1):c.3633A>G (p.Glu1211=) rs34788556 0.04127
NM_005502.4(ABCA1):c.5763T>C (p.Tyr1921=) rs34078184 0.03596
NM_005502.4(ABCA1):c.*1911C>T rs4149340 0.03281
NM_005502.4(ABCA1):c.*3220A>G rs10991377 0.02891
NM_005502.4(ABCA1):c.3945G>A (p.Gly1315=) rs35545593 0.02511
NM_005502.4(ABCA1):c.-279C>G rs111292742 0.02429
NM_005502.4(ABCA1):c.4440G>T (p.Gly1480=) rs41494750 0.02391
NM_005502.4(ABCA1):c.*2705G>A rs75141626 0.01191
NM_005502.4(ABCA1):c.6450G>A (p.Pro2150=) rs61741359 0.01152
NM_005502.4(ABCA1):c.2868C>T (p.Thr956=) rs35561837 0.01113
NM_005502.4(ABCA1):c.1635C>T (p.Ser545=) rs9282539 0.00886
NM_005502.4(ABCA1):c.*3083T>C rs77877520 0.00843
NM_005502.4(ABCA1):c.3159T>G (p.Val1053=) rs35871586 0.00751
NM_005502.4(ABCA1):c.2961-10C>T rs78329992 0.00749
NM_005502.4(ABCA1):c.*96T>C rs74316246 0.00612
NM_005502.4(ABCA1):c.2814G>A (p.Gly938=) rs9282546 0.00556
NM_005502.4(ABCA1):c.688C>T (p.Arg230Cys) rs9282541 0.00452
NM_005502.4(ABCA1):c.634T>A (p.Ser212Thr) rs115216814 0.00424
NM_005502.4(ABCA1):c.651A>G (p.Leu217=) rs9282538 0.00399
NM_005502.4(ABCA1):c.1530A>G (p.Leu510=) rs34590907 0.00367
NM_005502.4(ABCA1):c.-217A>G rs567793069 0.00336
NM_005502.4(ABCA1):c.2328G>C (p.Lys776Asn) rs138880920 0.00166
NM_005502.4(ABCA1):c.1977C>T (p.Ile659=) rs34083760 0.00095
NM_005502.4(ABCA1):c.*342G>T rs146987516 0.00082
NM_005502.4(ABCA1):c.4698+7T>C rs41415046 0.00052
NM_005502.4(ABCA1):c.2660G>T (p.Cys887Phe) rs187652566 0.00031
NM_005502.4(ABCA1):c.3865G>A (p.Asp1289Asn) rs137854500 0.00002
NM_005502.4(ABCA1):c.3121C>G (p.Leu1041Val) rs192935024 0.00001
NM_005502.4(ABCA1):c.*1466del rs200463326
NM_005502.4(ABCA1):c.*321del rs557492263
NM_005502.4(ABCA1):c.-76dup rs1799777
NM_005502.4(ABCA1):c.2311G>A (p.Val771Met) rs2066718
NM_005502.4(ABCA1):c.4536G>T (p.Thr1512=) rs41277763
NM_005502.4(ABCA1):c.5383-20_5383-18dup rs77663187
NM_005502.4(ABCA1):c.5383-3del rs77663187

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