List of variants in gene ACOX1 reported as likely pathogenic for central nervous system disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 34

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HGVS	dbSNP	gnomAD frequency
NM_004035.7(ACOX1):c.176G>C (p.Arg59Pro)	rs777937235	0.00001
NM_004035.7(ACOX1):c.538+1G>A	rs1466419887	0.00001
NM_004035.7(ACOX1):c.658+1G>T	rs779732414	0.00001
NM_004035.7(ACOX1):c.679G>A (p.Gly227Ser)	rs1002618350	0.00001
NC_000017.10:g.(?_73944322)_(73944548_?)del
NC_000017.11:g.(?_75946738)_(75957576_?)del
NC_000017.11:g.(?_75960205)_(75960385_?)dup
NM_004035.7(ACOX1):c.110-2A>G	rs2144330766
NM_004035.7(ACOX1):c.1299-1G>T
NM_004035.7(ACOX1):c.1311_1312del (p.Ser438fs)	rs747192384
NM_004035.7(ACOX1):c.1312del (p.Ser438fs)	rs747192384
NM_004035.7(ACOX1):c.139del (p.Gln47fs)	rs1567892272
NM_004035.7(ACOX1):c.1453G>T (p.Glu485Ter)
NM_004035.7(ACOX1):c.1478+1G>A	rs2144237287
NM_004035.7(ACOX1):c.1603del (p.Val534_Val535insTer)
NM_004035.7(ACOX1):c.1704_1707del (p.Ser568fs)	rs1332660959
NM_004035.7(ACOX1):c.1717del (p.Asp573fs)	rs1292759098
NM_004035.7(ACOX1):c.1729-2A>G
NM_004035.7(ACOX1):c.1729-2del
NM_004035.7(ACOX1):c.1789_1792del (p.Leu596_Thr597insTer)
NM_004035.7(ACOX1):c.1813dup (p.Ala605fs)
NM_004035.7(ACOX1):c.1851del (p.Gly618fs)	rs797045080
NM_004035.7(ACOX1):c.250G>T (p.Glu84Ter)
NM_004035.7(ACOX1):c.420_421del (p.Glu140fs)
NM_004035.7(ACOX1):c.498_499del (p.Asn166fs)
NM_004035.7(ACOX1):c.539-2A>G
NM_004035.7(ACOX1):c.541G>A (p.Gly181Arg)
NM_004035.7(ACOX1):c.629G>A (p.Arg210His)
NM_004035.7(ACOX1):c.679_774+103del
NM_004035.7(ACOX1):c.795C>A (p.Tyr265Ter)
NM_004035.7(ACOX1):c.846_856dup (p.Val286fs)
NM_004035.7(ACOX1):c.928T>C (p.Ser310Pro)
NM_004035.7(ACOX1):c.944+1G>T
NM_004035.7(ACOX1):c.945-1G>C	rs2144242585

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