List of variants studied for autosomal recessive disease by The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000019.4(ACAT1):c.1117A>T (p.Lys373Ter)	rs2134791703
NM_000019.4(ACAT1):c.131T>C (p.Ile44Thr)	rs2135334430
NM_000019.4(ACAT1):c.252del (p.Glu85fs)	rs2135336077
NM_000019.4(ACAT1):c.263A>C (p.Glu88Ala)	rs1565288701
NM_014425.5(INVS):c.2887C>T (p.Gln963Ter)	rs1425211517

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