List of variants reported as benign for 3-hydroxy-3-methylglutaryl-CoA synthase deficiency

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Total variants: 13

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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.*822G>A	rs116264779	0.00529
NM_005518.4(HMGCS2):c.-11C>T	rs2289459	0.00299
NM_005518.4(HMGCS2):c.*12A>C	rs182407677	0.00238
NM_005518.4(HMGCS2):c.1419G>A (p.Lys473=)	rs142776952	0.00228
NM_005518.4(HMGCS2):c.270G>A (p.Gln90=)	rs41302817	0.00216
NM_005518.4(HMGCS2):c.174C>T (p.Ala58=)	rs138739620	0.00153
NM_005518.4(HMGCS2):c.1124C>G (p.Ser375Cys)	rs151328418	0.00020
NM_005518.4(HMGCS2):c.851-14G>A	rs188523700	0.00016
NM_005518.4(HMGCS2):c.559+8C>T	rs377651850	0.00012
NM_005518.4(HMGCS2):c.111T>C (p.Ser37=)	rs200675569	0.00001
NM_005518.4(HMGCS2):c.*792G>A	rs41313276
NM_005518.4(HMGCS2):c.862C>A (p.Arg288=)	rs142637231

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