ClinVar Miner

List of variants in gene ABCA1 reported as uncertain significance for Tangier disease

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Total variants: 79
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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.5376C>T (p.Thr1792=) rs13306077 0.00198
NM_005502.4(ABCA1):c.-77G>A rs552862064 0.00113
NM_005502.4(ABCA1):c.3053A>G (p.Asp1018Gly) rs140365800 0.00072
NM_005502.4(ABCA1):c.3099G>C (p.Leu1033=) rs144726669 0.00046
NM_005502.4(ABCA1):c.1377A>C (p.Thr459=) rs186911476 0.00035
NM_005502.4(ABCA1):c.2235G>T (p.Leu745=) rs374418354 0.00026
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.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.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.-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.-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.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.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.68G>A (p.Cys23Tyr) rs769337995 0.00001
NM_005502.4(ABCA1):c.787C>G (p.His263Asp) rs200572505 0.00001
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.3124T>C (p.Ser1042Pro)
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.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.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.5593C>G (p.Leu1865Val) rs1322059898
NM_005502.4(ABCA1):c.5602G>A (p.Val1868Ile) rs1829582499
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.97C>T (p.Leu33=) rs886063313

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