List of variants reported as pathogenic for 3-hydroxy-3-methylglutaryl-CoA synthase deficiency by OMIM

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_005518.4(HMGCS2):c.634G>A (p.Gly212Arg)	rs137852638	0.00026
NM_005518.4(HMGCS2):c.1270C>T (p.Arg424Ter)	rs137852637	0.00004
NM_005518.4(HMGCS2):c.520T>C (p.Phe174Leu)	rs137852636	0.00004
NM_005518.4(HMGCS2):c.1480C>T (p.Arg494Ter)	rs776399237	0.00001
NM_005518.4(HMGCS2):c.1499G>A (p.Arg500His)	rs137852639	0.00001
NM_005518.4(HMGCS2):c.160G>A (p.Val54Met)	rs28937320	0.00001
NM_005518.4(HMGCS2):c.1502G>C (p.Arg501Pro)	rs372079931
NM_005518.4(HMGCS2):c.500A>G (p.Tyr167Cys)	rs137852640
NM_005518.4(HMGCS2):c.851-2A>C	rs1652885850
NM_005518.4(HMGCS2):c.862C>T (p.Arg288Ter)	rs142637231

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