ClinVar Miner

List of variants reported as uncertain significance for Very long chain acyl-CoA dehydrogenase deficiency by Fulgent Genetics, Fulgent Genetics

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Total variants: 14
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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.1754C>T (p.Ala585Val) rs374729641 0.00005
NM_000018.4(ACADVL):c.1226C>T (p.Thr409Met) rs113994169 0.00003
NM_000018.4(ACADVL):c.1711G>A (p.Gly571Arg) rs398123085 0.00003
NM_000018.4(ACADVL):c.-72_-71insGAGGACGTGGGCGTG rs1555527381 0.00002
NM_000018.4(ACADVL):c.340G>A (p.Glu114Lys) rs557260142 0.00002
NM_000018.4(ACADVL):c.1552G>A (p.Gly518Ser) rs374507980 0.00001
NM_000018.4(ACADVL):c.782T>C (p.Val261Ala) rs756069599 0.00001
NM_000018.4(ACADVL):c.1022G>C (p.Arg341Thr) rs1064793382
NM_000018.4(ACADVL):c.1147C>G (p.Leu383Val) rs756194870
NM_000018.4(ACADVL):c.1434+14T>C rs202217537
NM_000018.4(ACADVL):c.215C>T (p.Ser72Phe) rs1161495077
NM_000018.4(ACADVL):c.65C>G (p.Ser22Trp) rs727503788
NM_000018.4(ACADVL):c.998C>T (p.Ala333Val)

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