ClinVar Miner

List of variants in gene combination ACADVL, LOC130060113 reported as likely benign for Very long chain acyl-CoA dehydrogenase deficiency

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_000018.4(ACADVL):c.68G>A (p.Arg23Gln) rs34153370 0.00038
NM_000018.4(ACADVL):c.114G>C (p.Arg38=) rs777380964 0.00009
NM_000018.4(ACADVL):c.63-31C>T rs372982295 0.00007
NM_000018.4(ACADVL):c.62+18G>A rs780776419 0.00006
NM_000018.4(ACADVL):c.138+7C>A rs1462406529 0.00003
NM_000018.4(ACADVL):c.138+10C>G rs1057523013 0.00002
NM_000018.4(ACADVL):c.62+16G>A rs375651512 0.00002
NM_000018.4(ACADVL):c.111G>A (p.Arg37=) rs755803798 0.00001
NM_000018.4(ACADVL):c.117C>T (p.Pro39=) rs370883584 0.00001
NM_000018.4(ACADVL):c.123C>T (p.Ala41=) rs778217628 0.00001
NM_000018.4(ACADVL):c.129T>A (p.Gly43=) rs727503789 0.00001
NM_000018.4(ACADVL):c.132C>G (p.Ala44=) rs1237892223 0.00001
NM_000018.4(ACADVL):c.138+15C>T rs1280043899 0.00001
NM_000018.4(ACADVL):c.62+20G>A rs369163211 0.00001
NM_000018.4(ACADVL):c.63-16C>T rs534766941 0.00001
NM_000018.4(ACADVL):c.63-18A>G rs1481782237 0.00001
NM_000018.4(ACADVL):c.78G>C (p.Ala26=) rs1285117129 0.00001
NM_000018.4(ACADVL):c.102C>A (p.Gly34=)
NM_000018.4(ACADVL):c.102C>T (p.Gly34=) rs2142961120
NM_000018.4(ACADVL):c.108C>T (p.Ala36=) rs987306490
NM_000018.4(ACADVL):c.126G>T (p.Gly42=) rs1315511335
NM_000018.4(ACADVL):c.132C>T (p.Ala44=) rs1237892223
NM_000018.4(ACADVL):c.138+10C>A rs1057523013
NM_000018.4(ACADVL):c.138+10C>T rs1057523013
NM_000018.4(ACADVL):c.138+11G>T rs2508238643
NM_000018.4(ACADVL):c.138+16C>A rs2508238971
NM_000018.4(ACADVL):c.138+17T>C rs2142961713
NM_000018.4(ACADVL):c.138+7C>T rs1462406529
NM_000018.4(ACADVL):c.62+12_62+21del rs2142959968
NM_000018.4(ACADVL):c.62+19G>A
NM_000018.4(ACADVL):c.63-10C>T rs2142960638
NM_000018.4(ACADVL):c.63-16C>A rs534766941
NM_000018.4(ACADVL):c.63-16C>G rs534766941
NM_000018.4(ACADVL):c.63-17A>T rs1597516059
NM_000018.4(ACADVL):c.63-4A>G rs2142960681
NM_000018.4(ACADVL):c.63-5C>T rs2508234686
NM_000018.4(ACADVL):c.63-7C>T rs1296465152
NM_000018.4(ACADVL):c.63-8C>T rs2142960652
NM_000018.4(ACADVL):c.69G>A (p.Arg23=) rs2508235185
NM_000018.4(ACADVL):c.75G>T (p.Thr25=) rs2142960838
NM_000018.4(ACADVL):c.78G>T (p.Ala26=)
NM_000018.4(ACADVL):c.81C>G (p.Leu27=) rs2508235506
NM_000018.4(ACADVL):c.84G>A (p.Leu28=) rs2508235573
NM_000018.4(ACADVL):c.96G>A (p.Arg32=) rs1243371051
NM_000018.4(ACADVL):c.99C>T (p.Pro33=) rs1180929669

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