ClinVar Miner

List of variants in gene ACADVL reported as uncertain significance by Ambry Genetics

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_000018.4(ACADVL):c.1567G>A (p.Gly523Arg) rs139425622 0.00066
NM_000018.4(ACADVL):c.587C>T (p.Ala196Val) rs201370388 0.00034
NM_000018.4(ACADVL):c.1873C>G (p.Pro625Ala) rs377044444 0.00012
NM_000018.4(ACADVL):c.583A>G (p.Lys195Glu) rs199763196 0.00006
NM_000018.4(ACADVL):c.686G>A (p.Arg229Gln) rs777955007 0.00006
NM_000018.4(ACADVL):c.1754C>T (p.Ala585Val) rs374729641 0.00005
NM_000018.4(ACADVL):c.1226C>T (p.Thr409Met) rs113994169 0.00003
NM_000018.4(ACADVL):c.1858G>A (p.Ala620Thr) rs965557488 0.00003
NM_000018.4(ACADVL):c.1504C>G (p.Leu502Val) rs779901247 0.00002
NM_000018.4(ACADVL):c.1399A>G (p.Ile467Val) rs755685700 0.00001
NM_000018.4(ACADVL):c.1534C>T (p.Arg512Trp) rs371316167 0.00001
NM_000018.4(ACADVL):c.227G>A (p.Gly76Glu) rs750043368 0.00001
NM_000018.4(ACADVL):c.381G>A (p.Met127Ile) rs773608087 0.00001
NM_000018.4(ACADVL):c.715A>G (p.Lys239Glu) rs776331587 0.00001
NM_000018.4(ACADVL):c.725C>T (p.Thr242Ile) rs769631635 0.00001
NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu) rs200573371 0.00001
NM_000018.4(ACADVL):c.907A>G (p.Lys303Glu) rs369149696 0.00001
NM_000018.4(ACADVL):c.139-3C>T rs1555527630
NM_000018.4(ACADVL):c.142G>A (p.Ala48Thr)
NM_000018.4(ACADVL):c.142G>T (p.Ala48Ser)
NM_000018.4(ACADVL):c.1589G>A (p.Ser530Asn)
NM_000018.4(ACADVL):c.1779C>G (p.His593Gln)
NM_000018.4(ACADVL):c.1783A>G (p.Thr595Ala)
NM_000018.4(ACADVL):c.1891dup (p.Tyr631fs) rs2071412066
NM_000018.4(ACADVL):c.1927G>A (p.Glu643Lys)
NM_000018.4(ACADVL):c.197C>G (p.Ala66Gly) rs2071149098
NM_000018.4(ACADVL):c.244C>A (p.Leu82Ile)
NM_000018.4(ACADVL):c.358G>A (p.Ala120Thr)
NM_000018.4(ACADVL):c.370G>T (p.Ala124Ser) rs560912181
NM_000018.4(ACADVL):c.435A>C (p.Gln145His)
NM_000018.4(ACADVL):c.467G>A (p.Cys156Tyr)
NM_000018.4(ACADVL):c.533T>C (p.Leu178Pro) rs1131691808
NM_000018.4(ACADVL):c.883C>T (p.Pro295Ser)

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