ClinVar Miner

List of variants reported for 3-hydroxy-3-methylglutaryl-CoA synthase deficiency by Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_005518.4(HMGCS2):c.1480C>T (p.Arg494Ter)	rs776399237	0.00001
NM_005518.4(HMGCS2):c.1502G>C (p.Arg501Pro)	rs372079931

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