ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 117
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HGVS dbSNP gnomAD frequency
NM_005502.4(ABCA1):c.5927+18T>C rs2020927 0.24332
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.1195-13C>T rs2297399 0.05862
NM_005502.4(ABCA1):c.2960+18G>A rs60913410 0.02619
NM_005502.4(ABCA1):c.813+17C>T rs116728780 0.01740
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.2602G>A (p.Glu868Lys) rs35207495 0.00496
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.1196T>C (p.Val399Ala) rs9282543 0.00352
NM_005502.4(ABCA1):c.2320A>C (p.Thr774Pro) rs35819696 0.00289
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.5376C>T (p.Thr1792=) rs13306077 0.00198
NM_005502.4(ABCA1):c.2338-17T>C rs182899836 0.00192
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.2543-3C>T rs139457469 0.00159
NM_005502.4(ABCA1):c.2730T>C (p.Asp910=) rs142473861 0.00145
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.1977C>T (p.Ile659=) rs34083760 0.00095
NM_005502.4(ABCA1):c.720+6T>C rs188308962 0.00081
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.1055-7T>C rs199586194 0.00055
NM_005502.4(ABCA1):c.2115+17C>T rs371944946 0.00054
NM_005502.4(ABCA1):c.3099G>C (p.Leu1033=) rs144726669 0.00046
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.5398A>C (p.Asn1800His) rs146292819 0.00029
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.4250G>A (p.Arg1417His) rs116034780 0.00017
NM_005502.4(ABCA1):c.4155C>T (p.Asn1385=) rs367846898 0.00016
NM_005502.4(ABCA1):c.4773+6C>T rs368667473 0.00016
NM_005502.4(ABCA1):c.5034G>A (p.Gln1678=) rs13306075 0.00015
NM_005502.4(ABCA1):c.3768G>A (p.Gly1256=) rs140160885 0.00014
NM_005502.4(ABCA1):c.66+9G>T rs562165874 0.00012
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.5690G>A (p.Arg1897Gln) rs564049659 0.00007
NM_005502.4(ABCA1):c.3902-19C>T rs868826271 0.00005
NM_005502.4(ABCA1):c.5757+12C>T rs769533549 0.00005
NM_005502.4(ABCA1):c.302+17G>T rs367919230 0.00003
NM_005502.4(ABCA1):c.3515A>G (p.Glu1172Gly) rs142877738 0.00003
NM_005502.4(ABCA1):c.725C>G (p.Thr242Arg) rs775987152 0.00003
NM_005502.4(ABCA1):c.1912C>T (p.Arg638Trp) rs199571829 0.00002
NM_005502.4(ABCA1):c.4050+8G>A rs371581830 0.00002
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.2375A>G (p.Glu792Gly) rs762990532 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.5192C>G (p.Ser1731Cys) rs760507032 0.00001
NM_005502.4(ABCA1):c.5621T>G (p.Phe1874Cys) rs754410874 0.00001
NM_005502.4(ABCA1):c.689G>A (p.Arg230His) rs767710036 0.00001
NM_005502.4(ABCA1):c.1040A>G (p.Tyr347Cys)
NM_005502.4(ABCA1):c.1191T>C (p.Ala397=)
NM_005502.4(ABCA1):c.1302C>T (p.Asp434=) rs372030899
NM_005502.4(ABCA1):c.1312-16C>T
NM_005502.4(ABCA1):c.1338C>G (p.Asp446Glu) rs148314522
NM_005502.4(ABCA1):c.1371T>A (p.Asp457Glu)
NM_005502.4(ABCA1):c.1945A>T (p.Ile649Phe)
NM_005502.4(ABCA1):c.2051G>A (p.Ser684Asn)
NM_005502.4(ABCA1):c.2068C>G (p.Leu690Val)
NM_005502.4(ABCA1):c.2116-16G>A rs376099791
NM_005502.4(ABCA1):c.2604G>A (p.Glu868=) rs1482520924
NM_005502.4(ABCA1):c.303-42_303-5dup rs539194794
NM_005502.4(ABCA1):c.3048C>T (p.Ala1016=) rs2118966484
NM_005502.4(ABCA1):c.3103+1G>C
NM_005502.4(ABCA1):c.3104-5dup rs746119307
NM_005502.4(ABCA1):c.3215G>A (p.Trp1072Ter) rs1450125094
NM_005502.4(ABCA1):c.3241+5C>T
NM_005502.4(ABCA1):c.336T>C (p.Leu112=)
NM_005502.4(ABCA1):c.3536-6C>T
NM_005502.4(ABCA1):c.3555C>A (p.Asn1185Lys)
NM_005502.4(ABCA1):c.357C>A (p.Asp119Glu) rs763744498
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.3907A>G (p.Arg1303Gly)
NM_005502.4(ABCA1):c.4295G>A (p.Gly1432Glu)
NM_005502.4(ABCA1):c.4464+12T>C
NM_005502.4(ABCA1):c.4559+12C>T
NM_005502.4(ABCA1):c.4640C>T (p.Pro1547Leu)
NM_005502.4(ABCA1):c.4698+14C>G rs550787183
NM_005502.4(ABCA1):c.4774-17G>A rs202067417
NM_005502.4(ABCA1):c.4808G>C (p.Ser1603Thr) rs1030058509
NM_005502.4(ABCA1):c.4839T>C (p.Ile1613=)
NM_005502.4(ABCA1):c.5121+14C>T
NM_005502.4(ABCA1):c.5146C>G (p.Leu1716Val) rs1829900481
NM_005502.4(ABCA1):c.5374A>G (p.Thr1792Ala) rs1176498235
NM_005502.4(ABCA1):c.5383-20_5383-15dup rs77663187
NM_005502.4(ABCA1):c.5383-20_5383-17dup rs77663187
NM_005502.4(ABCA1):c.5383-20_5383-18dup rs77663187
NM_005502.4(ABCA1):c.5383-20_5383-19dup rs77663187
NM_005502.4(ABCA1):c.5383-3del rs77663187
NM_005502.4(ABCA1):c.5406C>T (p.Ile1802=) rs141980942
NM_005502.4(ABCA1):c.5655A>G (p.Leu1885=)
NM_005502.4(ABCA1):c.5782G>T (p.Ala1928Ser)
NM_005502.4(ABCA1):c.655A>C (p.Arg219=)
NM_005502.4(ABCA1):c.721-10del
NM_005502.4(ABCA1):c.886T>A (p.Ser296Thr)
NM_005502.4(ABCA1):c.934C>T (p.Pro312Ser) rs1183201615

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