ClinVar Miner

List of variants reported as benign for 3-hydroxy-3-methylglutaryl-CoA synthase deficiency by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_005518.4(HMGCS2):c.858C>T (p.Ser286=)	rs1992376	0.00546
NM_005518.4(HMGCS2):c.-11C>T	rs2289459	0.00299
NM_005518.4(HMGCS2):c.1419G>A (p.Lys473=)	rs142776952	0.00228

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