ClinVar Miner

List of variants reported as likely benign for obsolete apolipoprotein A-I deficiency

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
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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.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.5774G>A (p.Arg1925Gln) rs142688906 0.00227
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.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_000039.3(APOA1):c.284T>A (p.Phe95Tyr) rs138407155 0.00044
NM_005502.4(ABCA1):c.5020G>A (p.Val1674Ile) rs138422574 0.00044
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_000039.3(APOA1):c.*17C>T rs370532459 0.00014
NM_005502.4(ABCA1):c.1716G>A (p.Gly572=) rs143299210 0.00011
NM_005502.4(ABCA1):c.2283C>T (p.Tyr761=) rs201076284 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_000039.3(APOA1):c.-11G>A rs199729971 0.00005
NM_005502.4(ABCA1):c.5757+12C>T rs769533549 0.00005
NM_000039.3(APOA1):c.498C>A (p.Ser166Arg) rs757899657 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.6184G>A (p.Gly2062Arg) rs752051518 0.00003
NM_005502.4(ABCA1):c.664C>T (p.Leu222=) rs778130619 0.00003
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.497A>G (p.Lys166Arg) rs377248142 0.00001
NM_005502.4(ABCA1):c.6308+4C>T rs113077827 0.00001
NM_000039.3(APOA1):c.127G>C (p.Val43Leu) rs373545875
NM_005502.4(ABCA1):c.2311G>C (p.Val771Leu) rs2066718

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