List of variants reported as likely benign for 3-hydroxy-3-methylglutaryl-CoA synthase deficiency by Illumina Laboratory Services, Illumina

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_006623.3(PHGDH):c.*200A>G	rs17258425	0.11740
NM_005518.4(HMGCS2):c.*332A>C	rs56828380	0.02618
NM_005518.4(HMGCS2):c.*165C>T	rs138575225	0.01059
NM_005518.4(HMGCS2):c.858C>T (p.Ser286=)	rs1992376	0.00546
NM_005518.4(HMGCS2):c.270G>A (p.Gln90=)	rs41302817	0.00216
NM_005518.4(HMGCS2):c.1522G>A (p.Val508Ile)	rs76773981	0.00207
NM_005518.4(HMGCS2):c.*78A>G	rs143718202	0.00184
NM_005518.4(HMGCS2):c.175C>A (p.Leu59Met)	rs181428774	0.00010
NM_005518.4(HMGCS2):c.862C>A (p.Arg288=)	rs142637231

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