ClinVar Miner

List of variants in gene ABCA1 studied for Tangier disease

Included ClinVar conditions (3):
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Gene type:
ClinVar version:
Total variants: 172
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HGVS dbSNP gnomAD frequency
NM_005502.4(ABCA1):c.4559+30G>T rs2777801 0.85910
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_005502.4(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.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.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.2473G>A (p.Val825Ile) rs2066715 0.05456
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.3945G>A (p.Gly1315=) rs35545593 0.02511
NM_005502.4(ABCA1):c.4440G>T (p.Gly1480=) rs41494750 0.02391
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.3159T>G (p.Val1053=) rs35871586 0.00751
NM_005502.4(ABCA1):c.2961-10C>T rs78329992 0.00749
NM_005502.4(ABCA1):c.2814G>A (p.Gly938=) rs9282546 0.00556
NM_005502.4(ABCA1):c.2602G>A (p.Glu868Lys) rs35207495 0.00496
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.1196T>C (p.Val399Ala) rs9282543 0.00352
NM_005502.4(ABCA1):c.2320A>C (p.Thr774Pro) rs35819696 0.00289
NM_005502.4(ABCA1):c.5774G>A (p.Arg1925Gln) rs142688906 0.00227
NM_005502.4(ABCA1):c.2089G>A (p.Ala697Thr) rs114620717 0.00215
NM_005502.4(ABCA1):c.5376C>T (p.Thr1792=) rs13306077 0.00198
NM_005502.4(ABCA1):c.2338-17T>C rs182899836 0.00192
NM_005502.4(ABCA1):c.2328G>C (p.Lys776Asn) rs138880920 0.00166
NM_005502.4(ABCA1):c.2543-3C>T rs139457469 0.00159
NM_005502.4(ABCA1):c.3542C>T (p.Ser1181Phe) rs76881554 0.00145
NM_005502.4(ABCA1):c.5301T>C (p.Tyr1767=) rs145246003 0.00141
NM_005502.4(ABCA1):c.254C>T (p.Pro85Leu) rs145183203 0.00121
NM_005502.4(ABCA1):c.-77G>A rs552862064 0.00113
NM_005502.4(ABCA1):c.1977C>T (p.Ile659=) rs34083760 0.00095
NM_005502.4(ABCA1):c.720+6T>C rs188308962 0.00081
NM_005502.4(ABCA1):c.3053A>G (p.Asp1018Gly) rs140365800 0.00072
NM_005502.4(ABCA1):c.3544G>A (p.Ala1182Thr) rs143180998 0.00061
NM_005502.4(ABCA1):c.99A>G (p.Leu33=) rs141151519 0.00060
NM_005502.4(ABCA1):c.1055-7T>C rs199586194 0.00055
NM_005502.4(ABCA1):c.4698+7T>C rs41415046 0.00052
NM_005502.4(ABCA1):c.3099G>C (p.Leu1033=) rs144726669 0.00046
NM_005502.4(ABCA1):c.5020G>A (p.Val1674Ile) rs138422574 0.00044
NM_005502.4(ABCA1):c.1377A>C (p.Thr459=) rs186911476 0.00035
NM_005502.4(ABCA1):c.5039G>A (p.Arg1680Gln) rs150125857 0.00032
NM_005502.4(ABCA1):c.2660G>T (p.Cys887Phe) rs187652566 0.00031
NM_005502.4(ABCA1):c.1486C>T (p.Arg496Trp) rs147675550 0.00029
NM_005502.4(ABCA1):c.3204C>T (p.Arg1068=) rs55814314 0.00028
NM_005502.4(ABCA1):c.2235G>T (p.Leu745=) rs374418354 0.00026
NM_005502.4(ABCA1):c.1028C>T (p.Ala343Val) rs200030513 0.00022
NM_005502.4(ABCA1):c.1765G>A (p.Val589Ile) rs200928212 0.00016
NM_005502.4(ABCA1):c.5034G>A (p.Gln1678=) rs13306075 0.00015
NM_005502.4(ABCA1):c.5649A>G (p.Ala1883=) rs148253245 0.00014
NM_005502.4(ABCA1):c.5019C>T (p.Val1673=) rs371136175 0.00012
NM_005502.4(ABCA1):c.1716G>A (p.Gly572=) rs143299210 0.00011
NM_005502.4(ABCA1):c.1201A>C (p.Lys401Gln) rs138487227 0.00010
NM_005502.4(ABCA1):c.4764T>C (p.Asn1588=) rs9282547 0.00010
NM_005502.4(ABCA1):c.2903T>C (p.Met968Thr) rs776604878 0.00009
NM_005502.4(ABCA1):c.1390G>A (p.Val464Met) rs563149622 0.00008
NM_005502.4(ABCA1):c.2283C>T (p.Tyr761=) rs201076284 0.00008
NM_005502.4(ABCA1):c.3286G>A (p.Val1096Ile) rs13306073 0.00008
NM_005502.4(ABCA1):c.720+12T>C rs774118431 0.00008
NM_005502.4(ABCA1):c.1913G>A (p.Arg638Gln) rs374190304 0.00007
NM_005502.4(ABCA1):c.4037G>A (p.Gly1346Glu) rs762770081 0.00007
NM_005502.4(ABCA1):c.1467C>T (p.Asn489=) rs142342160 0.00006
NM_005502.4(ABCA1):c.161-12C>G rs201555773 0.00006
NM_005502.4(ABCA1):c.1996C>T (p.Arg666Trp) rs201599169 0.00006
NM_005502.4(ABCA1):c.5245A>G (p.Ile1749Val) rs760346286 0.00006
NM_005502.4(ABCA1):c.5492C>T (p.Ala1831Val) rs753324965 0.00006
NM_005502.4(ABCA1):c.5757+12C>T rs769533549 0.00005
NM_005502.4(ABCA1):c.-24G>A rs781476164 0.00004
NM_005502.4(ABCA1):c.2196G>A (p.Gln732=) rs187695583 0.00004
NM_005502.4(ABCA1):c.360C>T (p.Thr120=) rs771661583 0.00004
NM_005502.4(ABCA1):c.4222C>T (p.Leu1408Phe) rs201879964 0.00004
NM_005502.4(ABCA1):c.551T>C (p.Leu184Ser) rs141420090 0.00004
NM_005502.4(ABCA1):c.-26A>C rs199976989 0.00003
NM_005502.4(ABCA1):c.664C>T (p.Leu222=) rs778130619 0.00003
NM_005502.4(ABCA1):c.1695G>C (p.Arg565Ser) rs754040394 0.00002
NM_005502.4(ABCA1):c.3103+3G>A rs758322157 0.00002
NM_005502.4(ABCA1):c.3865G>A (p.Asp1289Asn) rs137854500 0.00002
NM_005502.4(ABCA1):c.4161G>A (p.Gln1387=) rs200409979 0.00002
NM_005502.4(ABCA1):c.5416G>A (p.Val1806Met) rs372779604 0.00002
NM_005502.4(ABCA1):c.562C>A (p.Gln188Lys) rs201447364 0.00002
NM_005502.4(ABCA1):c.1091C>G (p.Ser364Cys) rs775035559 0.00001
NM_005502.4(ABCA1):c.1537A>G (p.Ile513Val) rs1213172802 0.00001
NM_005502.4(ABCA1):c.1636A>G (p.Ile546Val) rs13306068 0.00001
NM_005502.4(ABCA1):c.1790A>G (p.Gln597Arg) rs2853578 0.00001
NM_005502.4(ABCA1):c.1827G>A (p.Thr609=) rs1454126964 0.00001
NM_005502.4(ABCA1):c.2804A>G (p.Asn935Ser) rs28937313 0.00001
NM_005502.4(ABCA1):c.2810C>T (p.Ala937Val) rs137854495 0.00001
NM_005502.4(ABCA1):c.302+15A>T rs200532064 0.00001
NM_005502.4(ABCA1):c.3121C>G (p.Leu1041Val) rs192935024 0.00001
NM_005502.4(ABCA1):c.3715A>G (p.Ile1239Val) rs138734266 0.00001
NM_005502.4(ABCA1):c.3726G>A (p.Thr1242=) rs548468204 0.00001
NM_005502.4(ABCA1):c.376C>T (p.Arg126Cys) rs1286945641 0.00001
NM_005502.4(ABCA1):c.4024C>T (p.Arg1342Trp) rs760786920 0.00001
NM_005502.4(ABCA1):c.4194C>T (p.Asp1398=) rs752528416 0.00001
NM_005502.4(ABCA1):c.4195A>T (p.Thr1399Ser) rs538614702 0.00001
NM_005502.4(ABCA1):c.4196C>T (p.Thr1399Met) rs199668464 0.00001
NM_005502.4(ABCA1):c.422-12A>G rs767068000 0.00001
NM_005502.4(ABCA1):c.4320A>G (p.Pro1440=) rs779634773 0.00001
NM_005502.4(ABCA1):c.4429T>C (p.Cys1477Arg) rs137854494 0.00001
NM_005502.4(ABCA1):c.497A>G (p.Lys166Arg) rs377248142 0.00001
NM_005502.4(ABCA1):c.5192C>G (p.Ser1731Cys) rs760507032 0.00001
NM_005502.4(ABCA1):c.5870A>C (p.Lys1957Thr) rs759114091 0.00001
NM_005502.4(ABCA1):c.68G>A (p.Cys23Tyr) rs769337995 0.00001
NM_005502.4(ABCA1):c.787C>G (p.His263Asp) rs200572505 0.00001
NG_007981.1:g.[101177_102434delins36;107248_127198delins21]
NM_005502.4(ABCA1):c.-76dup rs1799777
NM_005502.4(ABCA1):c.1227C>G (p.Phe409Leu)
NM_005502.4(ABCA1):c.1259G>A (p.Ser420Asn) rs1833877147
NM_005502.4(ABCA1):c.1295A>T (p.Glu432Val) rs1833872884
NM_005502.4(ABCA1):c.1338C>G (p.Asp446Glu) rs148314522
NM_005502.4(ABCA1):c.1584_1597delinsCGGGCGTGGTGGCAGGAGCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCACTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCTGAGGTCACGCCACTGTAC (p.Glu529_Trp533delinsGlyArgGlyGlyArgSerCysAsnProSerTyrLeuGlyGlyTer) rs796051873
NM_005502.4(ABCA1):c.1719C>A (p.Tyr573Ter) rs137854502
NM_005502.4(ABCA1):c.1769G>C (p.Trp590Ser) rs137854496
NM_005502.4(ABCA1):c.1824del (p.Thr609fs) rs387906413
NM_005502.4(ABCA1):c.1979del (p.Val660fs)
NM_005502.4(ABCA1):c.2005G>C (p.Glu669Gln)
NM_005502.4(ABCA1):c.2143C>A (p.Pro715Thr) rs886063312
NM_005502.4(ABCA1):c.2302C>T (p.Gln768Ter)
NM_005502.4(ABCA1):c.2311G>A (p.Val771Met) rs2066718
NM_005502.4(ABCA1):c.2311G>C (p.Val771Leu) rs2066718
NM_005502.4(ABCA1):c.2337+8C>A rs886063311
NM_005502.4(ABCA1):c.2725del (p.Arg909fs) rs1554714092
NM_005502.4(ABCA1):c.2803A>C (p.Asn935His) rs28937314
NM_005502.4(ABCA1):c.2803A>G (p.Asn935Asp) rs28937314
NM_005502.4(ABCA1):c.2988C>G (p.Phe996Leu) rs886063310
NM_005502.4(ABCA1):c.2995C>T (p.Arg999Cys)
NM_005502.4(ABCA1):c.3103+1G>C
NM_005502.4(ABCA1):c.3124T>C (p.Ser1042Pro)
NM_005502.4(ABCA1):c.3330C>G (p.Cys1110Trp) rs886063309
NM_005502.4(ABCA1):c.3343_3344del (p.Ser1115fs) rs387906414
NM_005502.4(ABCA1):c.3462+510A>G
NM_005502.4(ABCA1):c.352A>G (p.Lys118Glu) rs753703009
NM_005502.4(ABCA1):c.3554A>G (p.Asn1185Ser) rs148328750
NM_005502.4(ABCA1):c.3584G>A (p.Arg1195Gln)
NM_005502.4(ABCA1):c.3738+1G>C rs796051872
NM_005502.4(ABCA1):c.3833A>G (p.Lys1278Arg) rs886063308
NM_005502.4(ABCA1):c.3985T>G (p.Phe1329Val) rs886063307
NM_005502.4(ABCA1):c.4158A>G (p.Glu1386=) rs886063306
NM_005502.4(ABCA1):c.4324C>A (p.Pro1442Thr) rs757802013
NM_005502.4(ABCA1):c.4357A>G (p.Asn1453Asp) rs1830762964
NM_005502.4(ABCA1):c.4464+398C>T
NM_005502.4(ABCA1):c.4517C>T (p.Ser1506Leu) rs137854497
NM_005502.4(ABCA1):c.4536G>T (p.Thr1512=) rs41277763
NM_005502.4(ABCA1):c.4698+14C>G rs550787183
NM_005502.4(ABCA1):c.4698+8A>G rs1830384063
NM_005502.4(ABCA1):c.4993A>G (p.Met1665Val)
NM_005502.4(ABCA1):c.5201A>G (p.Asn1734Ser) rs1829897192
NM_005502.4(ABCA1):c.5237+6T>C rs1829894121
NM_005502.4(ABCA1):c.5347G>T (p.Val1783Leu) rs780534377
NM_005502.4(ABCA1):c.5383-20_5383-17dup rs77663187
NM_005502.4(ABCA1):c.5383-20_5383-18dup rs77663187
NM_005502.4(ABCA1):c.5383-3del rs77663187
NM_005502.4(ABCA1):c.5593C>G (p.Leu1865Val) rs1322059898
NM_005502.4(ABCA1):c.5602G>A (p.Val1868Ile) rs1829582499
NM_005502.4(ABCA1):c.5762A>G (p.Tyr1921Cys)
NM_005502.4(ABCA1):c.5785G>T (p.Val1929Phe)
NM_005502.4(ABCA1):c.5813C>T (p.Pro1938Leu) rs868096941
NM_005502.4(ABCA1):c.842T>C (p.Met281Thr) rs559110055
NM_005502.4(ABCA1):c.844C>T (p.Arg282Ter)
NM_005502.4(ABCA1):c.97C>T (p.Leu33=) rs886063313

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