ClinVar Miner

List of variants reported as likely benign for Very long chain acyl-CoA dehydrogenase deficiency by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000018.4(ACADVL):c.1839G>A (p.Arg613=) rs79125791 0.00254
NM_000018.4(ACADVL):c.1473A>G (p.Leu491=) rs150518187 0.00051
NM_000018.4(ACADVL):c.68G>A (p.Arg23Gln) rs34153370 0.00034
NM_000018.4(ACADVL):c.1678+15C>T rs371402802 0.00029
NM_000018.4(ACADVL):c.1227G>A (p.Thr409=) rs778531268 0.00014
NM_000018.4(ACADVL):c.62+9G>A rs369512281 0.00010
NM_000018.4(ACADVL):c.1182+17C>A rs191276923 0.00008
NM_000018.4(ACADVL):c.1532+11G>A rs372900326 0.00003
NM_000018.4(ACADVL):c.1078-23G>A rs372299655 0.00001
NM_000018.4(ACADVL):c.864C>T (p.Phe288=) rs753748672 0.00001
NM_000018.4(ACADVL):c.1434+14T>A rs202217537
NM_000018.4(ACADVL):c.1435-27T>A rs1281849589
NM_000018.4(ACADVL):c.1678+29T>C rs1023643662
NM_000018.4(ACADVL):c.1752-19A>G
NM_000018.4(ACADVL):c.62+10del rs1251002707

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