ClinVar Miner

List of variants reported for Succinyl-CoA acetoacetate transferase deficiency by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000436.4(OXCT1):c.1070A>G (p.His357Arg)
NM_000436.4(OXCT1):c.1424T>C (p.Val475Ala) rs2478254935
NM_000436.4(OXCT1):c.370C>T (p.Arg124Ter) rs1579884900

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