ClinVar Miner

List of variants in gene ACADVL reported as likely pathogenic by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

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Gene type:
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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000018.4(ACADVL):c.1241A>C (p.Glu414Ala) rs1597534120
NM_000018.4(ACADVL):c.1246G>A (p.Ala416Thr) rs118204018
NM_000018.4(ACADVL):c.425T>C (p.Phe142Ser) rs398123088

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