ClinVar Miner

List of variants in gene ABCA1 reported as benign by Illumina Laboratory Services, Illumina

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Gene type:
ClinVar version:
Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_005502.4(ABCA1):c.4760A>G (p.Lys1587Arg) rs2230808 0.59607
NM_005502.4(ABCA1):c.656G>A (p.Arg219Lys) rs2230806 0.38693
NM_005502.4(ABCA1):c.474G>A (p.Leu158=) rs2230805 0.31320
NM_005502.4(ABCA1):c.2649A>G (p.Ile883Met) rs2066714 0.25557
NM_005502.4(ABCA1):c.2040C>A (p.Ile680=) rs2853579 0.23559
NM_005502.4(ABCA1):c.948G>A (p.Gly316=) rs2246841 0.14663
NM_005502.4(ABCA1):c.814-14dup rs2067484 0.10846
NM_005502.4(ABCA1):c.-18G>C rs1800978 0.09771
NM_005502.4(ABCA1):c.936C>T (p.Pro312=) rs2274873 0.09319
NM_005502.4(ABCA1):c.4281G>A (p.Thr1427=) rs2066716 0.08340
NM_005502.4(ABCA1):c.3516G>C (p.Glu1172Asp) rs33918808 0.07360
NM_005502.4(ABCA1):c.1195-13C>T rs2297399 0.05862
NM_005502.4(ABCA1):c.3684G>A (p.Arg1228=) rs2230807 0.05833
NM_005502.4(ABCA1):c.2473G>A (p.Val825Ile) rs2066715 0.05456
NM_005502.4(ABCA1):c.3364C>T (p.Leu1122=) rs35204915 0.04423
NM_005502.4(ABCA1):c.3633A>G (p.Glu1211=) rs34788556 0.04127
NM_005502.4(ABCA1):c.5763T>C (p.Tyr1921=) rs34078184 0.03596
NM_005502.4(ABCA1):c.3945G>A (p.Gly1315=) rs35545593 0.02511
NM_005502.4(ABCA1):c.4440G>T (p.Gly1480=) rs41494750 0.02391
NM_005502.4(ABCA1):c.2868C>T (p.Thr956=) rs35561837 0.01113
NM_005502.4(ABCA1):c.1635C>T (p.Ser545=) rs9282539 0.00886
NM_005502.4(ABCA1):c.3159T>G (p.Val1053=) rs35871586 0.00751
NM_005502.4(ABCA1):c.2961-10C>T rs78329992 0.00749
NM_005502.4(ABCA1):c.2814G>A (p.Gly938=) rs9282546 0.00556
NM_005502.4(ABCA1):c.688C>T (p.Arg230Cys) rs9282541 0.00452
NM_005502.4(ABCA1):c.634T>A (p.Ser212Thr) rs115216814 0.00424
NM_005502.4(ABCA1):c.651A>G (p.Leu217=) rs9282538 0.00399
NM_005502.4(ABCA1):c.1530A>G (p.Leu510=) rs34590907 0.00367
NM_005502.4(ABCA1):c.2320A>C (p.Thr774Pro) rs35819696 0.00289
NM_005502.4(ABCA1):c.2089G>A (p.Ala697Thr) rs114620717 0.00215
NM_005502.4(ABCA1):c.5376C>T (p.Thr1792=) rs13306077 0.00198
NM_005502.4(ABCA1):c.2328G>C (p.Lys776Asn) rs138880920 0.00166
NM_005502.4(ABCA1):c.5301T>C (p.Tyr1767=) rs145246003 0.00141
NM_005502.4(ABCA1):c.1977C>T (p.Ile659=) rs34083760 0.00095
NM_005502.4(ABCA1):c.3053A>G (p.Asp1018Gly) rs140365800 0.00072
NM_005502.4(ABCA1):c.1055-7T>C rs199586194 0.00055
NM_005502.4(ABCA1):c.4698+7T>C rs41415046 0.00052
NM_005502.4(ABCA1):c.3099G>C (p.Leu1033=) rs144726669 0.00046
NM_005502.4(ABCA1):c.1377A>C (p.Thr459=) rs186911476 0.00035
NM_005502.4(ABCA1):c.2660G>T (p.Cys887Phe) rs187652566 0.00031
NM_005502.4(ABCA1):c.3204C>T (p.Arg1068=) rs55814314 0.00028
NM_005502.4(ABCA1):c.2235G>T (p.Leu745=) rs374418354 0.00026
NM_005502.4(ABCA1):c.1028C>T (p.Ala343Val) rs200030513 0.00022
NM_005502.4(ABCA1):c.5034G>A (p.Gln1678=) rs13306075 0.00015
NM_005502.4(ABCA1):c.5649A>G (p.Ala1883=) rs148253245 0.00014
NM_005502.4(ABCA1):c.5019C>T (p.Val1673=) rs371136175 0.00012
NM_005502.4(ABCA1):c.1201A>C (p.Lys401Gln) rs138487227 0.00010
NM_005502.4(ABCA1):c.4764T>C (p.Asn1588=) rs9282547 0.00010
NM_005502.4(ABCA1):c.3286G>A (p.Val1096Ile) rs13306073 0.00008
NM_005502.4(ABCA1):c.161-12C>G rs201555773 0.00006
NM_005502.4(ABCA1):c.1996C>T (p.Arg666Trp) rs201599169 0.00006
NM_005502.4(ABCA1):c.5245A>G (p.Ile1749Val) rs760346286 0.00006
NM_005502.4(ABCA1):c.2196G>A (p.Gln732=) rs187695583 0.00004
NM_005502.4(ABCA1):c.4222C>T (p.Leu1408Phe) rs201879964 0.00004
NM_005502.4(ABCA1):c.1695G>C (p.Arg565Ser) rs754040394 0.00002
NM_005502.4(ABCA1):c.3865G>A (p.Asp1289Asn) rs137854500 0.00002
NM_005502.4(ABCA1):c.1636A>G (p.Ile546Val) rs13306068 0.00001
NM_005502.4(ABCA1):c.302+15A>T rs200532064 0.00001
NM_005502.4(ABCA1):c.3121C>G (p.Leu1041Val) rs192935024 0.00001
NM_005502.4(ABCA1):c.3726G>A (p.Thr1242=) rs548468204 0.00001
NM_005502.4(ABCA1):c.4195A>T (p.Thr1399Ser) rs538614702 0.00001
NM_005502.4(ABCA1):c.-76dup rs1799777
NM_005502.4(ABCA1):c.1338C>G (p.Asp446Glu) rs148314522
NM_005502.4(ABCA1):c.2311G>A (p.Val771Met) rs2066718
NM_005502.4(ABCA1):c.4536G>T (p.Thr1512=) rs41277763
NM_005502.4(ABCA1):c.5383-20_5383-18dup rs77663187
NM_005502.4(ABCA1):c.5383-3del rs77663187

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