ClinVar Miner

List of variants reported as likely benign for Tangier disease by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005502.4(ABCA1):c.*1923A>C rs41437944 0.00992
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.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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.