ClinVar Miner

List of variants studied for Deficiency of acetyl-CoA acetyltransferase by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000019.4(ACAT1):c.-15C>G rs113348145 0.02192
NM_000019.4(ACAT1):c.978A>C (p.Pro326=) rs73559264 0.00941
NM_000019.4(ACAT1):c.903G>A (p.Ala301=) rs75811190 0.00390
NM_000019.4(ACAT1):c.238+17C>T rs199918672 0.00182
NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser) rs199524907 0.00004
NM_000019.4(ACAT1):c.1059T>A (p.Asn353Lys) rs1591374629

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