ClinVar Miner

Variants in gene ABCA1 with conflicting interpretations "uncertain significance" and "benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 18
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HGVS dbSNP gnomAD frequency
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.3542C>T (p.Ser1181Phe) rs76881554 0.00145
NM_005502.4(ABCA1):c.3053A>G (p.Asp1018Gly) rs140365800 0.00072
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.5636+18A>C rs111671370 0.00056
NM_005502.4(ABCA1):c.2660G>T (p.Cys887Phe) rs187652566 0.00031
NM_005502.4(ABCA1):c.1486C>T (p.Arg496Trp) rs147675550 0.00029
NM_005502.4(ABCA1):c.4250G>A (p.Arg1417His) rs116034780 0.00017
NM_005502.4(ABCA1):c.5690G>A (p.Arg1897Gln) rs564049659 0.00007
NM_005502.4(ABCA1):c.5492C>T (p.Ala1831Val) rs753324965 0.00006
NM_005502.4(ABCA1):c.3757G>A (p.Glu1253Lys) rs138056193 0.00004
NM_005502.4(ABCA1):c.3104-5dup rs746119307
NM_005502.4(ABCA1):c.4464+12T>C
NM_005502.4(ABCA1):c.613C>A (p.Gln205Lys)
NM_005502.4(ABCA1):c.721-10del
NM_005502.4(ABCA1):c.886T>A (p.Ser296Thr)

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