ClinVar Miner

List of variants in gene combination ACADVL, DLG4 reported as likely benign for Very long chain acyl-CoA dehydrogenase deficiency

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000018.4(ACADVL):c.33G>A (p.Gly11=) rs975427927 0.00001
NM_000018.4(ACADVL):c.51C>T (p.Leu17=) rs376733533 0.00001
NM_000018.4(ACADVL):c.54G>A (p.Gly18=) rs759918601 0.00001
NM_000018.4(ACADVL):c.24G>A (p.Ala8=)
NM_000018.4(ACADVL):c.24G>C (p.Ala8=) rs903824712
NM_000018.4(ACADVL):c.27C>T (p.Ser9=)
NM_000018.4(ACADVL):c.28T>C (p.Leu10=) rs1265116066
NM_000018.4(ACADVL):c.30G>A (p.Leu10=) rs2142959363
NM_000018.4(ACADVL):c.39G>A (p.Gln13=) rs1481490993
NM_000018.4(ACADVL):c.51C>G (p.Leu17=)
NM_000018.4(ACADVL):c.62+4TG[2]
NM_000018.4(ACADVL):c.62+4TG[3] rs777656865
NM_000018.4(ACADVL):c.9G>A (p.Ala3=)
NM_000018.4(ACADVL):c.9G>C (p.Ala3=)

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