ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 48
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000018.4(ACADVL):c.1066A>G (p.Ile356Val) rs150140386 0.00280
NM_000018.4(ACADVL):c.1839G>A (p.Arg613=) rs79125791 0.00254
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617 0.00244
NM_000018.4(ACADVL):c.*53C>T rs535274747 0.00148
NM_000018.4(ACADVL):c.818G>C (p.Gly273Ala) rs150149784 0.00124
NM_000018.4(ACADVL):c.780G>A (p.Thr260=) rs140871321 0.00108
NM_000018.4(ACADVL):c.1567G>A (p.Gly523Arg) rs139425622 0.00066
NM_000018.4(ACADVL):c.1284G>A (p.Lys428=) rs35501596 0.00061
NM_000018.4(ACADVL):c.1824C>T (p.Ile608=) rs146115467 0.00058
NM_000018.4(ACADVL):c.1473A>G (p.Leu491=) rs150518187 0.00051
NM_000018.4(ACADVL):c.1077+15C>T rs202237278 0.00041
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp) rs146379816 0.00039
NM_000018.4(ACADVL):c.1581G>A (p.Pro527=) rs149436747 0.00035
NM_000018.4(ACADVL):c.1678+15C>T rs371402802 0.00029
NM_000018.4(ACADVL):c.1533-4T>A rs369986567 0.00026
NM_000018.4(ACADVL):c.1227G>A (p.Thr409=) rs778531268 0.00014
NM_000018.4(ACADVL):c.1239A>G (p.Ile413Met) rs143172658 0.00011
NM_000018.4(ACADVL):c.1005C>A (p.His335Gln) rs753624994 0.00009
NM_000018.4(ACADVL):c.1803G>A (p.Met601Ile) rs201462718 0.00009
NM_000018.4(ACADVL):c.205-7T>C rs760625298 0.00007
NM_000018.4(ACADVL):c.205-8C>G rs774353448 0.00007
NM_000018.4(ACADVL):c.583A>G (p.Lys195Glu) rs199763196 0.00006
NM_000018.4(ACADVL):c.947G>A (p.Arg316Gln) rs147366714 0.00006
NM_000018.4(ACADVL):c.1754C>T (p.Ala585Val) rs374729641 0.00005
NM_000018.4(ACADVL):c.278T>C (p.Val93Ala) rs886053373 0.00003
NM_000018.4(ACADVL):c.298C>G (p.Gln100Glu) rs750675692 0.00003
NM_000018.4(ACADVL):c.343-14T>C rs200368309 0.00003
NM_000018.4(ACADVL):c.963C>T (p.Asn321=) rs568118142 0.00002
NM_000018.4(ACADVL):c.*32T>G rs886053376 0.00001
NM_000018.4(ACADVL):c.201G>A (p.Lys67=) rs753577095 0.00001
NM_000018.4(ACADVL):c.216C>T (p.Ser72=) rs761492981 0.00001
NM_000018.4(ACADVL):c.227G>A (p.Gly76Glu) rs750043368 0.00001
NM_000018.4(ACADVL):c.751A>G (p.Ser251Gly) rs749159573 0.00001
NM_000018.4(ACADVL):c.867G>T (p.Gly289=) rs745557512 0.00001
NM_000018.4(ACADVL):c.969G>A (p.Leu323=) rs749734276 0.00001
NM_000018.4(ACADVL):c.994G>A (p.Val332Ile) rs775761275 0.00001
NM_000018.4(ACADVL):c.*116C>G rs2071420563
NM_000018.4(ACADVL):c.*8del rs398123078
NM_000018.4(ACADVL):c.1081G>A (p.Asp361Asn) rs1331739604
NM_000018.4(ACADVL):c.1186A>G (p.Met396Val) rs2071337130
NM_000018.4(ACADVL):c.1215C>T (p.Asp405=) rs2071338251
NM_000018.4(ACADVL):c.1297T>C (p.Cys433Arg) rs886053374
NM_000018.4(ACADVL):c.1434+14T>A rs202217537
NM_000018.4(ACADVL):c.1578C>T (p.His526=) rs376504514
NM_000018.4(ACADVL):c.180G>C (p.Leu60=) rs886053372
NM_000018.4(ACADVL):c.1932G>A (p.Arg644=) rs886053375
NM_000018.4(ACADVL):c.300G>C (p.Gln100His) rs1268173973
NM_000018.4(ACADVL):c.481G>A (p.Ala161Thr) rs375284481

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.