ClinVar Miner

List of variants reported as uncertain significance for Tangier disease by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 160
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HGVS dbSNP gnomAD frequency
NM_005502.4(ABCA1):c.2320A>C (p.Thr774Pro) rs35819696 0.00289
NM_005502.4(ABCA1):c.-205G>T rs78086474 0.00222
NM_005502.4(ABCA1):c.5376C>T (p.Thr1792=) rs13306077 0.00198
NM_005502.4(ABCA1):c.-77G>A rs552862064 0.00113
NM_005502.4(ABCA1):c.*1467A>T rs886063298 0.00090
NM_005502.4(ABCA1):c.*2988C>T rs967923678 0.00075
NM_005502.4(ABCA1):c.3053A>G (p.Asp1018Gly) rs140365800 0.00072
NM_005502.4(ABCA1):c.-139T>C rs192053696 0.00062
NM_005502.4(ABCA1):c.3099G>C (p.Leu1033=) rs144726669 0.00046
NM_005502.4(ABCA1):c.*2537G>A rs999916021 0.00043
NM_005502.4(ABCA1):c.*3029A>G rs181614282 0.00043
NM_005502.4(ABCA1):c.1377A>C (p.Thr459=) rs186911476 0.00035
NM_005502.4(ABCA1):c.-223C>A rs886063315 0.00032
NM_005502.4(ABCA1):c.*368A>G rs13306080 0.00030
NM_005502.4(ABCA1):c.*3208T>A rs368530588 0.00028
NM_005502.4(ABCA1):c.*337C>T rs569460168 0.00028
NM_005502.4(ABCA1):c.*677A>G rs886063301 0.00027
NM_005502.4(ABCA1):c.2235G>T (p.Leu745=) rs374418354 0.00026
NM_005502.4(ABCA1):c.*3087C>T rs190539368 0.00023
NM_005502.4(ABCA1):c.-138G>A rs764398402 0.00022
NM_005502.4(ABCA1):c.*2330A>T rs543756430 0.00021
NM_005502.4(ABCA1):c.*1326C>T rs563738526 0.00016
NM_005502.4(ABCA1):c.*1476A>G rs537176920 0.00015
NM_005502.4(ABCA1):c.*2907A>C rs551547276 0.00015
NM_005502.4(ABCA1):c.*1154C>A rs186900352 0.00014
NM_005502.4(ABCA1):c.*1211G>A rs547220092 0.00014
NM_005502.4(ABCA1):c.*1218A>G rs528656411 0.00014
NM_005502.4(ABCA1):c.*1767G>T rs547281385 0.00014
NM_005502.4(ABCA1):c.*1768T>A rs535255845 0.00014
NM_005502.4(ABCA1):c.*2409T>C rs557529420 0.00014
NM_005502.4(ABCA1):c.*2611A>G rs572043133 0.00014
NM_005502.4(ABCA1):c.*2746T>C rs754322675 0.00014
NM_005502.4(ABCA1):c.*3279A>T rs572159293 0.00014
NM_005502.4(ABCA1):c.*614C>T rs879092419 0.00014
NM_005502.4(ABCA1):c.5649A>G (p.Ala1883=) rs148253245 0.00014
NM_005502.4(ABCA1):c.6083C>T (p.Ala2028Val) rs200788099 0.00014
NM_005502.4(ABCA1):c.*2486T>C rs539455164 0.00013
NM_005502.4(ABCA1):c.*303C>T rs530474404 0.00013
NM_005502.4(ABCA1):c.-114C>G rs755894358 0.00013
NM_005502.4(ABCA1):c.*2653C>G rs535377345 0.00012
NM_005502.4(ABCA1):c.5019C>T (p.Val1673=) rs371136175 0.00012
NM_005502.4(ABCA1):c.*2737T>C rs940819544 0.00011
NM_005502.4(ABCA1):c.*3187A>G rs778273493 0.00011
NM_005502.4(ABCA1):c.1716G>A (p.Gly572=) rs143299210 0.00011
NM_005502.4(ABCA1):c.*19G>T rs368288959 0.00010
NM_005502.4(ABCA1):c.*2089G>A rs146353431 0.00010
NM_005502.4(ABCA1):c.*398A>G rs755818735 0.00010
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.*699C>T rs912309547 0.00009
NM_005502.4(ABCA1):c.2903T>C (p.Met968Thr) rs776604878 0.00009
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.*1222C>T rs1037635917 0.00007
NM_005502.4(ABCA1):c.*486G>A rs745459951 0.00007
NM_005502.4(ABCA1):c.*417A>G rs561319670 0.00006
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.5757+12C>T rs769533549 0.00005
NM_005502.4(ABCA1):c.*289T>C rs886063303 0.00004
NM_005502.4(ABCA1):c.*379C>T rs867969689 0.00004
NM_005502.4(ABCA1):c.*983A>T rs995391814 0.00004
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.551T>C (p.Leu184Ser) rs141420090 0.00004
NM_005502.4(ABCA1):c.*1031T>C rs1037309867 0.00003
NM_005502.4(ABCA1):c.*1204A>T rs886063299 0.00003
NM_005502.4(ABCA1):c.*132A>G rs886063304 0.00003
NM_005502.4(ABCA1):c.*2645G>A rs1402427677 0.00003
NM_005502.4(ABCA1):c.-141C>G rs886063314 0.00003
NM_005502.4(ABCA1):c.-26A>C rs199976989 0.00003
NM_005502.4(ABCA1):c.6184G>A (p.Gly2062Arg) rs752051518 0.00003
NM_005502.4(ABCA1):c.664C>T (p.Leu222=) rs778130619 0.00003
NM_005502.4(ABCA1):c.*2002A>C rs1041411944 0.00002
NM_005502.4(ABCA1):c.*2446A>C rs886063293 0.00002
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.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_005502.3(ABCA1):c.-343A>C rs886063317 0.00001
NM_005502.4(ABCA1):c.*1773A>C rs1366452009 0.00001
NM_005502.4(ABCA1):c.*1876A>G rs768723417 0.00001
NM_005502.4(ABCA1):c.*1970G>C rs1385392723 0.00001
NM_005502.4(ABCA1):c.*2516T>C rs1032727777 0.00001
NM_005502.4(ABCA1):c.*285C>T rs759527890 0.00001
NM_005502.4(ABCA1):c.*2893C>A rs1223126122 0.00001
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.1827G>A (p.Thr609=) rs1454126964 0.00001
NM_005502.4(ABCA1):c.302+15A>T rs200532064 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.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.6109T>A (p.Tyr2037Asn) rs886063305 0.00001
NM_005502.4(ABCA1):c.6308+4C>T rs113077827 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
NM_005502.3(ABCA1):c.*3312A>C rs200442611
NM_005502.4(ABCA1):c.*1173C>T rs1828646913
NM_005502.4(ABCA1):c.*1260C>G rs148609447
NM_005502.4(ABCA1):c.*1574T>C rs886063297
NM_005502.4(ABCA1):c.*1657C>T rs886063296
NM_005502.4(ABCA1):c.*1790C>T rs76321849
NM_005502.4(ABCA1):c.*1900T>G rs886063295
NM_005502.4(ABCA1):c.*2220T>A rs886063294
NM_005502.4(ABCA1):c.*2371A>G rs987868101
NM_005502.4(ABCA1):c.*2502T>G rs963823410
NM_005502.4(ABCA1):c.*329T>C rs1280497287
NM_005502.4(ABCA1):c.*406T>C rs151170184
NM_005502.4(ABCA1):c.*566G>C rs886063302
NM_005502.4(ABCA1):c.*874G>A rs569604699
NM_005502.4(ABCA1):c.*875T>A rs886063300
NM_005502.4(ABCA1):c.*898C>G rs1056929833
NM_005502.4(ABCA1):c.-141C>T rs886063314
NM_005502.4(ABCA1):c.-188G>C rs1826491198
NM_005502.4(ABCA1):c.-194C>T rs1446880475
NM_005502.4(ABCA1):c.-281C>A rs1264541659
NM_005502.4(ABCA1):c.-289G>T rs886063316
NM_005502.4(ABCA1):c.-93+13C>G rs1588614357
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.2143C>A (p.Pro715Thr) rs886063312
NM_005502.4(ABCA1):c.2337+8C>A rs886063311
NM_005502.4(ABCA1):c.2988C>G (p.Phe996Leu) rs886063310
NM_005502.4(ABCA1):c.3330C>G (p.Cys1110Trp) rs886063309
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.3833A>G (p.Lys1278Arg) rs886063308
NM_005502.4(ABCA1):c.3985T>G (p.Phe1329Val) rs886063307
NM_005502.4(ABCA1):c.4084C>T (p.Leu1362Phe) rs1364173135
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.4698+14C>G rs550787183
NM_005502.4(ABCA1):c.4698+8A>G rs1830384063
NM_005502.4(ABCA1):c.5201A>G (p.Asn1734Ser) rs1829897192
NM_005502.4(ABCA1):c.5237+6T>C rs1829894121
NM_005502.4(ABCA1):c.5383-20_5383-17dup 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.5813C>T (p.Pro1938Leu) rs868096941
NM_005502.4(ABCA1):c.6440G>T (p.Gly2147Val) rs376067764
NM_005502.4(ABCA1):c.842T>C (p.Met281Thr) rs559110055
NM_005502.4(ABCA1):c.97C>T (p.Leu33=) rs886063313

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