ClinVar Miner

List of variants in gene ACOX1 reported as uncertain significance by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 141
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HGVS dbSNP gnomAD frequency
NM_004035.7(ACOX1):c.*2625T>C rs570538901 0.00396
NM_004035.7(ACOX1):c.*1738A>G rs191352194 0.00258
NM_004035.7(ACOX1):c.*620G>A rs777876086 0.00181
NM_004035.7(ACOX1):c.1368C>T (p.Asn456=) rs151255626 0.00147
NM_004035.7(ACOX1):c.*1678C>T rs185971543 0.00121
NM_004035.7(ACOX1):c.-76C>G rs552785255 0.00118
NM_004035.7(ACOX1):c.*3551G>A rs192191225 0.00114
NM_004035.7(ACOX1):c.*2267A>G rs541192594 0.00109
NM_004035.7(ACOX1):c.*441G>A rs182375752 0.00106
NM_004035.7(ACOX1):c.*1431A>G rs138647867 0.00095
NM_004035.7(ACOX1):c.*2969A>G rs186334014 0.00078
NM_004035.7(ACOX1):c.*3345C>A rs745760931 0.00071
NM_004035.7(ACOX1):c.*4039G>T rs577207820 0.00070
NM_004035.7(ACOX1):c.1478+13T>C rs199908120 0.00059
NM_004035.7(ACOX1):c.*4259C>T rs150647165 0.00054
NM_004035.7(ACOX1):c.1344G>A (p.Val448=) rs753969664 0.00045
NM_004035.7(ACOX1):c.458C>T (p.Thr153Ile) rs17855420 0.00043
NM_004035.7(ACOX1):c.*4516G>A rs553127304 0.00039
NM_004035.7(ACOX1):c.*1014A>G rs573099492 0.00029
NM_004035.7(ACOX1):c.*1021C>A rs867741007 0.00029
NM_004035.7(ACOX1):c.*2699C>G rs983903623 0.00029
NM_004035.7(ACOX1):c.*2737C>T rs777324722 0.00028
NM_004035.7(ACOX1):c.*5092A>G rs371782179 0.00028
NM_004035.7(ACOX1):c.*5000G>T rs778738153 0.00026
NM_004035.7(ACOX1):c.*2688C>T rs550555029 0.00020
NM_004035.7(ACOX1):c.574C>A (p.Gln192Lys) rs200833797 0.00019
NM_004035.7(ACOX1):c.*1853T>C rs373499939 0.00018
NM_004035.7(ACOX1):c.*3915C>T rs559485748 0.00018
NM_004035.7(ACOX1):c.*481G>A rs191031491 0.00018
NM_004035.7(ACOX1):c.*155A>T rs544439410 0.00016
NM_004035.7(ACOX1):c.*4346G>C rs886053435 0.00014
NM_004035.7(ACOX1):c.1695T>C (p.Tyr565=) rs774049893 0.00014
NM_004035.7(ACOX1):c.*2736G>A rs563182345 0.00013
NM_004035.7(ACOX1):c.1584+11G>A rs185329691 0.00012
NM_004035.7(ACOX1):c.*3060T>C rs184719344 0.00011
NM_004035.7(ACOX1):c.*1083C>T rs886053448 0.00009
NM_004035.7(ACOX1):c.*2843A>G rs914883828 0.00009
NM_004035.7(ACOX1):c.*1126A>G rs545439135 0.00008
NM_004035.7(ACOX1):c.*676G>T rs886053453 0.00008
NM_004035.7(ACOX1):c.*932T>C rs762398053 0.00008
NM_004035.7(ACOX1):c.788G>C (p.Gly263Ala) rs377216317 0.00008
NM_004035.7(ACOX1):c.*1458A>G rs190434510 0.00007
NM_004035.7(ACOX1):c.*1756G>A rs535627256 0.00007
NM_004035.7(ACOX1):c.*2559G>C rs556935739 0.00007
NM_004035.7(ACOX1):c.*4484A>G rs542553215 0.00007
NM_004035.7(ACOX1):c.667G>A (p.Val223Ile) rs143260706 0.00007
NM_004035.7(ACOX1):c.*1434C>T rs886053446 0.00006
NM_004035.7(ACOX1):c.1790C>T (p.Thr597Ile) rs376148124 0.00006
NM_004035.7(ACOX1):c.*1172A>T rs1280243706 0.00005
NM_004035.7(ACOX1):c.*2746C>T rs1051899730 0.00005
NM_004035.7(ACOX1):c.*4820T>C rs938899521 0.00005
NM_004035.7(ACOX1):c.405T>C (p.Thr135=) rs142474717 0.00005
NM_004035.7(ACOX1):c.912C>T (p.Ser304=) rs144826451 0.00005
NM_004035.7(ACOX1):c.*1809A>G rs548325591 0.00004
NM_004035.7(ACOX1):c.*1938C>T rs886053444 0.00004
NM_004035.7(ACOX1):c.*3628C>T rs1001514619 0.00004
NM_004035.7(ACOX1):c.*4021C>T rs536938567 0.00004
NM_004035.7(ACOX1):c.*1023A>C rs886053450 0.00003
NM_004035.7(ACOX1):c.*1034T>G rs886053449 0.00003
NM_004035.7(ACOX1):c.*1380T>C rs886053447 0.00003
NM_004035.7(ACOX1):c.*1743G>C rs530905223 0.00003
NM_004035.7(ACOX1):c.*2643C>T rs886053441 0.00003
NM_004035.7(ACOX1):c.*4590G>A rs886053432 0.00003
NM_004035.7(ACOX1):c.1068C>T (p.Asn356=) rs374533122 0.00003
NM_004035.7(ACOX1):c.122T>C (p.Leu41Pro) rs572633541 0.00003
NM_004035.7(ACOX1):c.825C>T (p.Tyr275=) rs542159010 0.00003
NM_004035.7(ACOX1):c.*3105C>T rs951128230 0.00002
NM_004035.7(ACOX1):c.*3621C>G rs886053438 0.00002
NM_004035.7(ACOX1):c.*3944G>A rs1020872917 0.00002
NM_004035.7(ACOX1):c.*4489C>T rs1251345653 0.00002
NM_004035.7(ACOX1):c.*720C>T rs531041128 0.00002
NM_004035.7(ACOX1):c.*721A>G rs561931985 0.00002
NM_004035.7(ACOX1):c.*840A>T rs997501157 0.00002
NM_004035.7(ACOX1):c.1123G>A (p.Ala375Thr) rs767935600 0.00002
NM_004035.7(ACOX1):c.510G>A (p.Val170=) rs752375436 0.00002
NM_004035.7(ACOX1):c.*1096C>G rs371154191 0.00001
NM_004035.7(ACOX1):c.*2451A>G rs562755014 0.00001
NM_004035.7(ACOX1):c.*2584C>A rs2065698931 0.00001
NM_004035.7(ACOX1):c.*3665C>T rs369759832 0.00001
NM_004035.7(ACOX1):c.*3779A>G rs1193014187 0.00001
NM_004035.7(ACOX1):c.*4766G>A rs777396782 0.00001
NM_004035.7(ACOX1):c.*5028T>G rs1477212977 0.00001
NM_004035.7(ACOX1):c.*678T>C rs183331347 0.00001
NM_004035.7(ACOX1):c.1541T>C (p.Val514Ala) rs776575018 0.00001
NM_004035.7(ACOX1):c.1556C>T (p.Thr519Ile) rs758791373 0.00001
NM_004035.7(ACOX1):c.1821T>C (p.Val607=) rs762221413 0.00001
NM_004035.7(ACOX1):c.408T>C (p.Tyr136=) rs779313800 0.00001
NM_004035.7(ACOX1):c.659-4G>A rs746563980 0.00001
NM_004035.7(ACOX1):c.737G>A (p.Arg246His) rs1392899105 0.00001
NM_004035.7(ACOX1):c.774+11A>G rs768703904 0.00001
NM_004035.7(ACOX1):c.871C>T (p.Arg291Trp) rs778134359 0.00001
NM_004035.6(ACOX1):c.-105C>G rs886053460
NM_004035.7(ACOX1):c.*1276A>G rs545831823
NM_004035.7(ACOX1):c.*1782dup rs886053445
NM_004035.7(ACOX1):c.*1985C>T rs1271734766
NM_004035.7(ACOX1):c.*2021C>G rs1279349605
NM_004035.7(ACOX1):c.*2021C>T rs1279349605
NM_004035.7(ACOX1):c.*2212del rs886053443
NM_004035.7(ACOX1):c.*2235G>C rs539726478
NM_004035.7(ACOX1):c.*2239A>T rs886053442
NM_004035.7(ACOX1):c.*2644G>A rs566241535
NM_004035.7(ACOX1):c.*2875C>T rs150295638
NM_004035.7(ACOX1):c.*2887C>G rs936092624
NM_004035.7(ACOX1):c.*2926T>C rs2065695960
NM_004035.7(ACOX1):c.*3207T>C rs914936809
NM_004035.7(ACOX1):c.*3377dup rs886053440
NM_004035.7(ACOX1):c.*3421T>C rs1005299162
NM_004035.7(ACOX1):c.*3529_*3531dup rs572895309
NM_004035.7(ACOX1):c.*3531dup rs572895309
NM_004035.7(ACOX1):c.*3533del rs886053439
NM_004035.7(ACOX1):c.*3576T>G rs1056216820
NM_004035.7(ACOX1):c.*4295_*4296del rs886053437
NM_004035.7(ACOX1):c.*4296del rs374686428
NM_004035.7(ACOX1):c.*4317_*4318dup rs35173085
NM_004035.7(ACOX1):c.*4387G>C rs2065679181
NM_004035.7(ACOX1):c.*4440C>T rs886053434
NM_004035.7(ACOX1):c.*4579C>T rs886053433
NM_004035.7(ACOX1):c.*478T>C rs886053455
NM_004035.7(ACOX1):c.*4806A>G rs758260276
NM_004035.7(ACOX1):c.*4829AT[1] rs139840183
NM_004035.7(ACOX1):c.*4876C>T rs886053431
NM_004035.7(ACOX1):c.*5037T>C rs532148425
NM_004035.7(ACOX1):c.*5117A>C rs886053430
NM_004035.7(ACOX1):c.*660A>C rs886053454
NM_004035.7(ACOX1):c.*756G>A rs886053452
NM_004035.7(ACOX1):c.*765G>A rs886053451
NM_004035.7(ACOX1):c.*946GTT[1] rs879489092
NM_004035.7(ACOX1):c.*959T>A rs2065714683
NM_004035.7(ACOX1):c.*959dup rs35453987
NM_004035.7(ACOX1):c.-62_-61dup rs886053459
NM_004035.7(ACOX1):c.-92C>T rs2066091561
NM_004035.7(ACOX1):c.1406_1408del (p.Ala469del) rs886053457
NM_004035.7(ACOX1):c.1468C>T (p.Arg490Cys) rs143601596
NM_004035.7(ACOX1):c.1479-12A>G rs2065755060
NM_004035.7(ACOX1):c.1561G>T (p.Val521Phe) rs775115439
NM_004035.7(ACOX1):c.16C>A (p.Arg6Ser) rs141670654
NM_004035.7(ACOX1):c.1866C>A (p.Gly622=) rs886053456
NM_004035.7(ACOX1):c.208A>G (p.Met70Val) rs2066081272
NM_004035.7(ACOX1):c.270-8C>G rs751892262
NM_004035.7(ACOX1):c.460G>T (p.Ala154Ser) rs145324538
NM_004035.7(ACOX1):c.658+4A>G rs886053458

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