ClinVar Miner

List of variants reported as likely benign for Tangier disease

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_005502.4(ABCA1):c.2868C>T (p.Thr956=) rs35561837 0.01113
NM_005502.4(ABCA1):c.*1923A>C rs41437944 0.00992
NM_005502.4(ABCA1):c.2961-10C>T rs78329992 0.00749
NM_005502.4(ABCA1):c.6729C>A (p.Asp2243Glu) rs34879708 0.00586
NM_005502.4(ABCA1):c.2602G>A (p.Glu868Lys) rs35207495 0.00496
NM_005502.4(ABCA1):c.1196T>C (p.Val399Ala) rs9282543 0.00352
NM_005502.4(ABCA1):c.*3251T>C rs148080589 0.00346
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.2338-17T>C rs182899836 0.00192
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.720+6T>C rs188308962 0.00081
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.5020G>A (p.Val1674Ile) rs138422574 0.00044
NM_005502.4(ABCA1):c.*1327G>A rs202165873 0.00041
NM_005502.4(ABCA1):c.5039G>A (p.Arg1680Gln) rs150125857 0.00032
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.1028C>T (p.Ala343Val) rs200030513 0.00022
NM_005502.4(ABCA1):c.*16del rs762785983 0.00019
NM_005502.4(ABCA1):c.5034G>A (p.Gln1678=) rs13306075 0.00015
NM_005502.4(ABCA1):c.*1586A>G rs75340923 0.00014
NM_000039.3(APOA1):c.454G>A (p.Glu152Lys) rs574061789 0.00010
NM_005502.4(ABCA1):c.1913G>A (p.Arg638Gln) rs374190304 0.00007
NM_005502.4(ABCA1):c.*1322C>T rs144920087 0.00004
NM_005502.4(ABCA1):c.*1373dup rs577914936 0.00004
NM_005502.4(ABCA1):c.4222C>T (p.Leu1408Phe) rs201879964 0.00004
NM_005502.4(ABCA1):c.*3254T>C rs79840023 0.00002
NM_005502.4(ABCA1):c.*1291del rs547038401
NM_005502.4(ABCA1):c.*1803G>C rs549298167
NM_005502.4(ABCA1):c.*2129A>T rs573577369
NM_005502.4(ABCA1):c.*3205_*3207del rs538025657
NM_005502.4(ABCA1):c.2311G>C (p.Val771Leu) rs2066718

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