ClinVar Miner

List of variants in gene ABCA1 reported as likely benign by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_005502.4(ABCA1):c.2602G>A (p.Glu868Lys) rs35207495 0.00496
NM_005502.4(ABCA1):c.651A>G (p.Leu217=) rs9282538 0.00399
NM_005502.4(ABCA1):c.1196T>C (p.Val399Ala) rs9282543 0.00352
NM_005502.4(ABCA1):c.2089G>A (p.Ala697Thr) rs114620717 0.00215
NM_005502.4(ABCA1):c.2328G>C (p.Lys776Asn) rs138880920 0.00166
NM_005502.4(ABCA1):c.1524C>T (p.Asn508=) rs142239617 0.00160
NM_005502.4(ABCA1):c.2730T>C (p.Asp910=) rs142473861 0.00145
NM_005502.4(ABCA1):c.254C>T (p.Pro85Leu) rs145183203 0.00121
NM_005502.4(ABCA1):c.1977C>T (p.Ile659=) rs34083760 0.00095
NM_005502.4(ABCA1):c.3544G>A (p.Ala1182Thr) rs143180998 0.00061
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.2235G>T (p.Leu745=) rs374418354 0.00026
NM_005502.4(ABCA1):c.4250G>A (p.Arg1417His) rs116034780 0.00017
NM_005502.4(ABCA1):c.4773+6C>T rs368667473 0.00016
NM_005502.4(ABCA1):c.1716G>A (p.Gly572=) rs143299210 0.00011
NM_005502.4(ABCA1):c.2811G>A (p.Ala937=) rs147290375 0.00009
NM_005502.4(ABCA1):c.2910C>T (p.Thr970=) rs142992384 0.00008
NM_005502.4(ABCA1):c.3432C>T (p.Asn1144=) rs559256396 0.00007
NM_005502.4(ABCA1):c.2082T>C (p.Leu694=) rs1296884530 0.00001
NM_005502.4(ABCA1):c.2355G>T (p.Val785=) rs1355015657 0.00001
NM_005502.4(ABCA1):c.2678C>T (p.Thr893Ile) rs758107854 0.00001
NM_005502.4(ABCA1):c.4194C>T (p.Asp1398=) rs752528416 0.00001
NM_005502.4(ABCA1):c.4482A>G (p.Ala1494=) rs1250688041 0.00001
NM_005502.4(ABCA1):c.1191T>C (p.Ala397=)
NM_005502.4(ABCA1):c.1302C>T (p.Asp434=) rs372030899
NM_005502.4(ABCA1):c.1338C>G (p.Asp446Glu) rs148314522
NM_005502.4(ABCA1):c.2116-16G>A rs376099791
NM_005502.4(ABCA1):c.2604G>A (p.Glu868=) rs1482520924
NM_005502.4(ABCA1):c.3048C>T (p.Ala1016=) rs2118966484
NM_005502.4(ABCA1):c.336T>C (p.Leu112=)
NM_005502.4(ABCA1):c.3555C>A (p.Asn1185Lys)
NM_005502.4(ABCA1):c.3584G>A (p.Arg1195Gln)
NM_005502.4(ABCA1):c.3651C>A (p.Ala1217=)
NM_005502.4(ABCA1):c.3756C>T (p.Ala1252=)
NM_005502.4(ABCA1):c.4839T>C (p.Ile1613=)
NM_005502.4(ABCA1):c.5655A>G (p.Leu1885=)
NM_005502.4(ABCA1):c.655A>C (p.Arg219=)

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