ClinVar Miner

List of variants in gene ACOX1 reported as pathogenic for brain disorder

Included ClinVar conditions (1834):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_004035.7(ACOX1):c.538+1G>A rs1466419887 0.00001
NM_004035.7(ACOX1):c.904C>T (p.Arg302Ter) rs536723496 0.00001
NC_000017.10:g.(?_73951637)_(73956466_?)del
NC_000017.10:g.(?_73956286)_(73956466_?)del
NC_000017.11:g.(?_75973605)_(75979093_?)del
NG_008190.1:g.(22608_?)_(?_41151)del
NG_008190.1:g.(?_18821)_(36526_?)del
NM_004035.7(ACOX1):c.1100del (p.Leu367fs)
NM_004035.7(ACOX1):c.1119del (p.Thr374fs) rs2144240988
NM_004035.7(ACOX1):c.1276_1277del (p.Val426fs)
NM_004035.7(ACOX1):c.1312del (p.Ser438fs) rs747192384
NM_004035.7(ACOX1):c.1396del (p.Gln466fs) rs2065757552
NM_004035.7(ACOX1):c.139C>T (p.Gln47Ter)
NM_004035.7(ACOX1):c.139del (p.Gln47fs) rs1567892272
NM_004035.7(ACOX1):c.1406del (p.Ala469fs)
NM_004035.7(ACOX1):c.1502dup (p.Asn501fs)
NM_004035.7(ACOX1):c.1599del (p.His532_Tyr533insTer)
NM_004035.7(ACOX1):c.1704_1707del (p.Ser568fs) rs1332660959
NM_004035.7(ACOX1):c.1717del (p.Asp573fs) rs1292759098
NM_004035.7(ACOX1):c.1728+1G>A
NM_004035.7(ACOX1):c.1789_1792del (p.Leu596_Thr597insTer)
NM_004035.7(ACOX1):c.193del (p.Arg65fs)
NM_004035.7(ACOX1):c.211del (p.Met70_Val71insTer)
NM_004035.7(ACOX1):c.250G>T (p.Glu84Ter)
NM_004035.7(ACOX1):c.260G>A (p.Trp87Ter)
NM_004035.7(ACOX1):c.270-1_277delinsA rs2065876254
NM_004035.7(ACOX1):c.276del (p.His93fs) rs2065876304
NM_004035.7(ACOX1):c.280C>T (p.Arg94Ter) rs780675610
NM_004035.7(ACOX1):c.320del (p.Phe107fs) rs2065875711
NM_004035.7(ACOX1):c.33del (p.Ala12fs)
NM_004035.7(ACOX1):c.372_389del (p.Phe124_Asn129del) rs387906248
NM_004035.7(ACOX1):c.431-1G>A rs773710550
NM_004035.7(ACOX1):c.442C>T (p.Arg148Ter) rs118204093
NM_004035.7(ACOX1):c.468T>A (p.Tyr156Ter) rs542410903
NM_004035.7(ACOX1):c.525G>A (p.Trp175Ter)
NM_004035.7(ACOX1):c.532G>T (p.Gly178Cys) rs118204091
NM_004035.7(ACOX1):c.684del (p.Lys229fs)
NM_004035.7(ACOX1):c.710A>G (p.Asn237Ser) rs1567876984
NM_004035.7(ACOX1):c.832A>G (p.Met278Val) rs118204090
NM_004035.7(ACOX1):c.879_882del (p.Ser294fs) rs1338953985
NM_004035.7(ACOX1):c.909C>G (p.Tyr303Ter)
NM_004035.7(ACOX1):c.926A>G (p.Gln309Arg) rs118204092
NM_004035.7(ACOX1):c.979C>T (p.Gln327Ter)

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