ClinVar Miner

List of variants in gene ABCA12 studied for Inborn genetic diseases

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Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_173076.3(ABCA12):c.5086G>A (p.Asp1696Asn) rs147973580 0.00007
NM_173076.3(ABCA12):c.5548T>C (p.Ser1850Pro) rs151083083 0.00007
NM_173076.3(ABCA12):c.4351A>T (p.Thr1451Ser) rs201123321 0.00003
NM_173076.3(ABCA12):c.2417T>G (p.Leu806Trp) rs147076551 0.00001
NM_173076.3(ABCA12):c.3713T>G (p.Met1238Arg) rs199940403 0.00001
NM_173076.3(ABCA12):c.4164T>G (p.Ile1388Met) rs759223757 0.00001
NM_173076.3(ABCA12):c.101T>C (p.Val34Ala)
NM_173076.3(ABCA12):c.1406T>C (p.Phe469Ser)
NM_173076.3(ABCA12):c.1447A>C (p.Ile483Leu)
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.1574A>G (p.Tyr525Cys)
NM_173076.3(ABCA12):c.1601C>T (p.Pro534Leu)
NM_173076.3(ABCA12):c.161C>T (p.Thr54Ile)
NM_173076.3(ABCA12):c.1661A>G (p.Gln554Arg)
NM_173076.3(ABCA12):c.1694T>G (p.Leu565Arg)
NM_173076.3(ABCA12):c.172G>T (p.Ala58Ser)
NM_173076.3(ABCA12):c.1891C>T (p.Arg631Trp)
NM_173076.3(ABCA12):c.2038A>T (p.Met680Leu)
NM_173076.3(ABCA12):c.2101A>G (p.Arg701Gly)
NM_173076.3(ABCA12):c.2338T>G (p.Phe780Val)
NM_173076.3(ABCA12):c.2362A>G (p.Ile788Val)
NM_173076.3(ABCA12):c.2411T>C (p.Met804Thr)
NM_173076.3(ABCA12):c.2560C>T (p.His854Tyr)
NM_173076.3(ABCA12):c.2684A>G (p.Asp895Gly)
NM_173076.3(ABCA12):c.2810A>C (p.Asp937Ala)
NM_173076.3(ABCA12):c.2821A>G (p.Arg941Gly)
NM_173076.3(ABCA12):c.2849A>G (p.Asn950Ser)
NM_173076.3(ABCA12):c.2864G>T (p.Ser955Ile)
NM_173076.3(ABCA12):c.2866G>A (p.Val956Ile)
NM_173076.3(ABCA12):c.300T>G (p.Asp100Glu)
NM_173076.3(ABCA12):c.3253G>A (p.Val1085Ile)
NM_173076.3(ABCA12):c.3284G>A (p.Arg1095Gln)
NM_173076.3(ABCA12):c.3333C>A (p.Phe1111Leu)
NM_173076.3(ABCA12):c.3355G>A (p.Val1119Ile)
NM_173076.3(ABCA12):c.3376A>C (p.Ile1126Leu)
NM_173076.3(ABCA12):c.356G>A (p.Ser119Asn)
NM_173076.3(ABCA12):c.3634T>A (p.Ser1212Thr)
NM_173076.3(ABCA12):c.374G>A (p.Ser125Asn)
NM_173076.3(ABCA12):c.3838G>C (p.Gly1280Arg)
NM_173076.3(ABCA12):c.385C>T (p.Pro129Ser) rs267599201
NM_173076.3(ABCA12):c.3899G>A (p.Cys1300Tyr)
NM_173076.3(ABCA12):c.4022A>T (p.Asp1341Val)
NM_173076.3(ABCA12):c.4240C>T (p.His1414Tyr)
NM_173076.3(ABCA12):c.4249C>T (p.Arg1417Trp)
NM_173076.3(ABCA12):c.4352C>G (p.Thr1451Ser)
NM_173076.3(ABCA12):c.4394A>T (p.Asp1465Val)
NM_173076.3(ABCA12):c.4618G>T (p.Ala1540Ser)
NM_173076.3(ABCA12):c.4640T>C (p.Ile1547Thr)
NM_173076.3(ABCA12):c.4790C>T (p.Ala1597Val)
NM_173076.3(ABCA12):c.4817C>G (p.Ala1606Gly)
NM_173076.3(ABCA12):c.482T>C (p.Leu161Pro)
NM_173076.3(ABCA12):c.4927G>A (p.Gly1643Ser)
NM_173076.3(ABCA12):c.5034C>G (p.His1678Gln)
NM_173076.3(ABCA12):c.5080A>T (p.Thr1694Ser)
NM_173076.3(ABCA12):c.5108G>C (p.Ser1703Thr)
NM_173076.3(ABCA12):c.5154G>C (p.Arg1718Ser)
NM_173076.3(ABCA12):c.5159A>G (p.Asp1720Gly)
NM_173076.3(ABCA12):c.518A>G (p.Gln173Arg)
NM_173076.3(ABCA12):c.5266G>A (p.Val1756Ile)
NM_173076.3(ABCA12):c.5341C>T (p.Pro1781Ser)
NM_173076.3(ABCA12):c.5345C>G (p.Ser1782Cys)
NM_173076.3(ABCA12):c.5404G>T (p.Ala1802Ser)
NM_173076.3(ABCA12):c.5495A>G (p.Glu1832Gly)
NM_173076.3(ABCA12):c.5642G>A (p.Arg1881Gln)
NM_173076.3(ABCA12):c.569G>C (p.Gly190Ala)
NM_173076.3(ABCA12):c.5704A>C (p.Ser1902Arg)
NM_173076.3(ABCA12):c.571T>C (p.Tyr191His)
NM_173076.3(ABCA12):c.5869G>A (p.Asp1957Asn)
NM_173076.3(ABCA12):c.596G>T (p.Trp199Leu)
NM_173076.3(ABCA12):c.713A>G (p.Asn238Ser)
NM_173076.3(ABCA12):c.725T>C (p.Val242Ala)
NM_173076.3(ABCA12):c.746T>C (p.Met249Thr)
NM_173076.3(ABCA12):c.781G>C (p.Ala261Pro)
NM_173076.3(ABCA12):c.848T>C (p.Phe283Ser)
NM_173076.3(ABCA12):c.852T>A (p.Asp284Glu)

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