List of variants reported as pathogenic for 3-hydroxy-3-methylglutaryl-CoA synthase deficiency by Department of Endocrinology, Metabolism and Genetics, Henan Children's Hospital, Children's Hospital Affiliated to Zhengzhou University

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_005518.4(HMGCS2):c.1017-2A>G	rs111313628	0.00001
NM_005518.4(HMGCS2):c.1394del (p.Asn465fs)	rs779321975
NM_005518.4(HMGCS2):c.39dup (p.Leu14fs)	rs2101283660
NM_005518.4(HMGCS2):c.717T>G (p.Tyr239Ter)	rs1652955748
NM_005518.4(HMGCS2):c.788del (p.Leu263fs)	rs2101262353

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