ClinVar Miner

List of variants reported as pathogenic for Deficiency of acetyl-CoA acetyltransferase by Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000019.4(ACAT1):c.1124A>G (p.Asn375Ser)	rs373771053	0.00002
NM_000019.4(ACAT1):c.622C>T (p.Arg208Ter)	rs532190594	0.00002

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