ClinVar Miner

List of variants in gene ABCA12 studied for Inborn genetic diseases

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Gene type:
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Total variants: 165
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HGVS dbSNP gnomAD frequency
NM_173076.3(ABCA12):c.2330C>T (p.Ser777Phe) rs138952646 0.00099
NM_173076.3(ABCA12):c.5266G>A (p.Val1756Ile) rs140745167 0.00082
NM_173076.3(ABCA12):c.3788T>G (p.Ile1263Ser) rs143354105 0.00056
NM_173076.3(ABCA12):c.5747C>T (p.Thr1916Ile) rs373276045 0.00038
NM_173076.3(ABCA12):c.2945A>C (p.Lys982Thr) rs142196906 0.00037
NM_173076.3(ABCA12):c.356G>A (p.Ser119Asn) rs148586447 0.00031
NM_173076.3(ABCA12):c.2773G>A (p.Val925Ile) rs141142206 0.00019
NM_173076.3(ABCA12):c.311A>C (p.Lys104Thr) rs549020816 0.00017
NM_173076.3(ABCA12):c.1891C>T (p.Arg631Trp) rs751271500 0.00009
NM_173076.3(ABCA12):c.2819A>T (p.Glu940Val) rs149643123 0.00009
NM_173076.3(ABCA12):c.2498C>T (p.Ala833Val) rs745503625 0.00008
NM_173076.3(ABCA12):c.5548T>C (p.Ser1850Pro) rs151083083 0.00008
NM_173076.3(ABCA12):c.300T>G (p.Asp100Glu) rs140292194 0.00007
NM_173076.3(ABCA12):c.5086G>A (p.Asp1696Asn) rs147973580 0.00007
NM_173076.3(ABCA12):c.1694T>G (p.Leu565Arg) rs756445658 0.00005
NM_173076.3(ABCA12):c.2866G>A (p.Val956Ile) rs371260673 0.00005
NM_173076.3(ABCA12):c.3376A>C (p.Ile1126Leu) rs937745060 0.00005
NM_173076.3(ABCA12):c.4618G>T (p.Ala1540Ser) rs771394858 0.00005
NM_173076.3(ABCA12):c.4640T>C (p.Ile1547Thr) rs540572488 0.00005
NM_173076.3(ABCA12):c.5642G>A (p.Arg1881Gln) rs764908376 0.00005
NM_173076.3(ABCA12):c.4249C>T (p.Arg1417Trp) rs146331985 0.00004
NM_173076.3(ABCA12):c.5108G>C (p.Ser1703Thr) rs774005738 0.00004
NM_173076.3(ABCA12):c.625A>G (p.Lys209Glu) rs949576201 0.00004
NM_173076.3(ABCA12):c.904C>T (p.Arg302Cys) rs553945164 0.00004
NM_173076.3(ABCA12):c.3283C>T (p.Arg1095Trp) rs755595336 0.00003
NM_173076.3(ABCA12):c.4351A>T (p.Thr1451Ser) rs201123321 0.00003
NM_173076.3(ABCA12):c.5034C>G (p.His1678Gln) rs372794722 0.00003
NM_173076.3(ABCA12):c.746T>C (p.Met249Thr) rs367861522 0.00003
NM_173076.3(ABCA12):c.953A>G (p.His318Arg) rs765900740 0.00003
NM_173076.3(ABCA12):c.1010T>C (p.Val337Ala) rs187013643 0.00002
NM_173076.3(ABCA12):c.101T>C (p.Val34Ala) rs201228799 0.00002
NM_173076.3(ABCA12):c.1600C>G (p.Pro534Ala) rs557461059 0.00002
NM_173076.3(ABCA12):c.3634T>A (p.Ser1212Thr) rs747227538 0.00002
NM_173076.3(ABCA12):c.385C>T (p.Pro129Ser) rs267599201 0.00002
NM_173076.3(ABCA12):c.5495A>G (p.Glu1832Gly) rs1054445578 0.00002
NM_173076.3(ABCA12):c.1174T>C (p.Ser392Pro) rs369251597 0.00001
NM_173076.3(ABCA12):c.1442C>T (p.Thr481Ile) rs1347565631 0.00001
NM_173076.3(ABCA12):c.1496G>C (p.Arg499Thr) rs761962371 0.00001
NM_173076.3(ABCA12):c.1574A>G (p.Tyr525Cys) rs753042560 0.00001
NM_173076.3(ABCA12):c.1601C>T (p.Pro534Leu) rs760080854 0.00001
NM_173076.3(ABCA12):c.1661A>G (p.Gln554Arg) rs778200334 0.00001
NM_173076.3(ABCA12):c.2101A>G (p.Arg701Gly) rs764239599 0.00001
NM_173076.3(ABCA12):c.2338T>G (p.Phe780Val) rs1475812105 0.00001
NM_173076.3(ABCA12):c.2362A>G (p.Ile788Val) rs761667655 0.00001
NM_173076.3(ABCA12):c.2411T>C (p.Met804Thr) rs1371386586 0.00001
NM_173076.3(ABCA12):c.2417T>G (p.Leu806Trp) rs147076551 0.00001
NM_173076.3(ABCA12):c.2906G>C (p.Gly969Ala) rs1241747221 0.00001
NM_173076.3(ABCA12):c.2938G>A (p.Val980Ile) rs1000068243 0.00001
NM_173076.3(ABCA12):c.3098T>C (p.Ile1033Thr) rs754684869 0.00001
NM_173076.3(ABCA12):c.3253G>A (p.Val1085Ile) rs373340066 0.00001
NM_173076.3(ABCA12):c.3284G>A (p.Arg1095Gln) rs749885453 0.00001
NM_173076.3(ABCA12):c.3333C>A (p.Phe1111Leu) rs1471687214 0.00001
NM_173076.3(ABCA12):c.3713T>G (p.Met1238Arg) rs199940403 0.00001
NM_173076.3(ABCA12):c.374G>A (p.Ser125Asn) rs774076870 0.00001
NM_173076.3(ABCA12):c.4022A>T (p.Asp1341Val) rs1443306448 0.00001
NM_173076.3(ABCA12):c.4164T>G (p.Ile1388Met) rs759223757 0.00001
NM_173076.3(ABCA12):c.4394A>T (p.Asp1465Val) rs1006910418 0.00001
NM_173076.3(ABCA12):c.476A>C (p.Gln159Pro) rs764668399 0.00001
NM_173076.3(ABCA12):c.5345C>G (p.Ser1782Cys) rs140464323 0.00001
NM_173076.3(ABCA12):c.571T>C (p.Tyr191His) rs929377203 0.00001
NM_173076.3(ABCA12):c.5869G>A (p.Asp1957Asn) rs991980283 0.00001
NM_173076.3(ABCA12):c.596G>T (p.Trp199Leu) rs1187032187 0.00001
NM_173076.3(ABCA12):c.642C>G (p.Asn214Lys) rs747122599 0.00001
NM_173076.3(ABCA12):c.713A>G (p.Asn238Ser) rs1280886092 0.00001
NM_173076.3(ABCA12):c.781G>C (p.Ala261Pro) rs371506785 0.00001
NM_173076.3(ABCA12):c.1062G>T (p.Gln354His)
NM_173076.3(ABCA12):c.1177C>G (p.Pro393Ala) rs1284289050
NM_173076.3(ABCA12):c.1204A>G (p.Thr402Ala)
NM_173076.3(ABCA12):c.1232G>T (p.Arg411Leu) rs768861556
NM_173076.3(ABCA12):c.1349A>G (p.Glu450Gly)
NM_173076.3(ABCA12):c.1362G>T (p.Gln454His) rs760713161
NM_173076.3(ABCA12):c.1402G>C (p.Glu468Gln) rs1700583907
NM_173076.3(ABCA12):c.1406T>C (p.Phe469Ser) rs1218797912
NM_173076.3(ABCA12):c.1447A>C (p.Ile483Leu) rs778035381
NM_173076.3(ABCA12):c.1475A>G (p.Asn492Ser)
NM_173076.3(ABCA12):c.1493T>G (p.Val498Gly) rs2469340816
NM_173076.3(ABCA12):c.1498G>T (p.Asp500Tyr) rs1700579943
NM_173076.3(ABCA12):c.1514A>T (p.Asp505Val) rs1700579348
NM_173076.3(ABCA12):c.152C>A (p.Ala51Glu) rs764100720
NM_173076.3(ABCA12):c.161C>T (p.Thr54Ile) rs2469552886
NM_173076.3(ABCA12):c.172G>A (p.Ala58Thr)
NM_173076.3(ABCA12):c.172G>T (p.Ala58Ser) rs753638586
NM_173076.3(ABCA12):c.1814G>A (p.Cys605Tyr)
NM_173076.3(ABCA12):c.1972A>C (p.Lys658Gln)
NM_173076.3(ABCA12):c.2038A>T (p.Met680Leu) rs575786108
NM_173076.3(ABCA12):c.2129A>G (p.Tyr710Cys)
NM_173076.3(ABCA12):c.2177C>G (p.Ser726Cys)
NM_173076.3(ABCA12):c.2243G>A (p.Arg748Lys)
NM_173076.3(ABCA12):c.2267A>T (p.Asp756Val) rs372688749
NM_173076.3(ABCA12):c.2377G>A (p.Ala793Thr) rs762700120
NM_173076.3(ABCA12):c.2537C>T (p.Ser846Leu) rs750987657
NM_173076.3(ABCA12):c.2560C>T (p.His854Tyr) rs759472663
NM_173076.3(ABCA12):c.256C>T (p.Pro86Ser) rs1286189545
NM_173076.3(ABCA12):c.2638G>A (p.Val880Met)
NM_173076.3(ABCA12):c.2668C>G (p.Gln890Glu)
NM_173076.3(ABCA12):c.2684A>G (p.Asp895Gly) rs2469289807
NM_173076.3(ABCA12):c.275T>G (p.Leu92Arg)
NM_173076.3(ABCA12):c.2786G>A (p.Arg929His)
NM_173076.3(ABCA12):c.2810A>C (p.Asp937Ala) rs2469289396
NM_173076.3(ABCA12):c.2821A>G (p.Arg941Gly) rs1700146916
NM_173076.3(ABCA12):c.2849A>G (p.Asn950Ser) rs2469289261
NM_173076.3(ABCA12):c.2864G>T (p.Ser955Ile) rs1295381101
NM_173076.3(ABCA12):c.2933C>T (p.Pro978Leu)
NM_173076.3(ABCA12):c.3017G>A (p.Gly1006Glu)
NM_173076.3(ABCA12):c.3026A>G (p.Asn1009Ser)
NM_173076.3(ABCA12):c.3026A>T (p.Asn1009Ile) rs780203862
NM_173076.3(ABCA12):c.3191G>T (p.Ser1064Ile)
NM_173076.3(ABCA12):c.3319T>G (p.Ser1107Ala)
NM_173076.3(ABCA12):c.3355G>A (p.Val1119Ile) rs2469258297
NM_173076.3(ABCA12):c.3488A>T (p.Tyr1163Phe) rs375387283
NM_173076.3(ABCA12):c.352G>A (p.Asp118Asn)
NM_173076.3(ABCA12):c.35T>G (p.Val12Gly)
NM_173076.3(ABCA12):c.3676T>A (p.Tyr1226Asn)
NM_173076.3(ABCA12):c.3697C>T (p.Leu1233Phe)
NM_173076.3(ABCA12):c.3775G>A (p.Ala1259Thr)
NM_173076.3(ABCA12):c.3835T>C (p.Tyr1279His)
NM_173076.3(ABCA12):c.3838G>C (p.Gly1280Arg) rs775920671
NM_173076.3(ABCA12):c.3899G>A (p.Cys1300Tyr) rs2469248586
NM_173076.3(ABCA12):c.3918G>C (p.Glu1306Asp) rs370828016
NM_173076.3(ABCA12):c.3973G>T (p.Ala1325Ser) rs1559132115
NM_173076.3(ABCA12):c.3989T>C (p.Met1330Thr)
NM_173076.3(ABCA12):c.400G>T (p.Ala134Ser) rs2106060931
NM_173076.3(ABCA12):c.4063T>C (p.Tyr1355His)
NM_173076.3(ABCA12):c.4075G>T (p.Val1359Phe)
NM_173076.3(ABCA12):c.4154C>G (p.Thr1385Ser) rs2105971519
NM_173076.3(ABCA12):c.4240C>T (p.His1414Tyr) rs758882496
NM_173076.3(ABCA12):c.4333A>G (p.Ile1445Val)
NM_173076.3(ABCA12):c.4352C>G (p.Thr1451Ser) rs2469237435
NM_173076.3(ABCA12):c.4411C>G (p.His1471Asp)
NM_173076.3(ABCA12):c.4439C>T (p.Ser1480Leu)
NM_173076.3(ABCA12):c.4591A>T (p.Ile1531Phe) rs2469228394
NM_173076.3(ABCA12):c.4607A>G (p.His1536Arg)
NM_173076.3(ABCA12):c.4790C>T (p.Ala1597Val) rs143094635
NM_173076.3(ABCA12):c.4817C>G (p.Ala1606Gly) rs2469223241
NM_173076.3(ABCA12):c.482T>C (p.Leu161Pro) rs1481610281
NM_173076.3(ABCA12):c.4900C>T (p.Leu1634Phe)
NM_173076.3(ABCA12):c.4903C>G (p.Leu1635Val) rs1699583384
NM_173076.3(ABCA12):c.4927G>A (p.Gly1643Ser) rs759068959
NM_173076.3(ABCA12):c.494T>G (p.Leu165Arg) rs1701338863
NM_173076.3(ABCA12):c.4994C>T (p.Thr1665Ile)
NM_173076.3(ABCA12):c.5030A>T (p.Glu1677Val)
NM_173076.3(ABCA12):c.5080A>T (p.Thr1694Ser) rs1699568936
NM_173076.3(ABCA12):c.5111A>G (p.Asn1704Ser)
NM_173076.3(ABCA12):c.5147G>A (p.Gly1716Glu)
NM_173076.3(ABCA12):c.5154G>C (p.Arg1718Ser) rs2469215950
NM_173076.3(ABCA12):c.5159A>G (p.Asp1720Gly) rs761656303
NM_173076.3(ABCA12):c.518A>G (p.Gln173Arg) rs781289173
NM_173076.3(ABCA12):c.5275A>G (p.Thr1759Ala) rs1183687701
NM_173076.3(ABCA12):c.5341C>T (p.Pro1781Ser) rs1439471550
NM_173076.3(ABCA12):c.5399C>T (p.Thr1800Met)
NM_173076.3(ABCA12):c.5404G>T (p.Ala1802Ser) rs1559123915
NM_173076.3(ABCA12):c.5431C>T (p.Pro1811Ser)
NM_173076.3(ABCA12):c.5447T>A (p.Met1816Lys)
NM_173076.3(ABCA12):c.5510G>A (p.Ser1837Asn)
NM_173076.3(ABCA12):c.569G>C (p.Gly190Ala) rs1357408923
NM_173076.3(ABCA12):c.5704A>C (p.Ser1902Arg) rs1366719136
NM_173076.3(ABCA12):c.5734C>T (p.Arg1912Cys)
NM_173076.3(ABCA12):c.5796A>C (p.Glu1932Asp) rs774138733
NM_173076.3(ABCA12):c.5825A>G (p.Asn1942Ser)
NM_173076.3(ABCA12):c.5863A>G (p.Lys1955Glu)
NM_173076.3(ABCA12):c.713A>T (p.Asn238Ile)
NM_173076.3(ABCA12):c.725T>C (p.Val242Ala) rs2469406879
NM_173076.3(ABCA12):c.848T>C (p.Phe283Ser) rs543778192
NM_173076.3(ABCA12):c.852T>A (p.Asp284Glu) rs745456701
NM_173076.3(ABCA12):c.923G>T (p.Gly308Val)

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