ClinVar Miner

List of variants studied for 3-hydroxy-3-methylglutaryl-CoA synthase deficiency by Juno Genomics, Hangzhou Juno Genomics, Inc

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_005518.4(HMGCS2):c.520T>C (p.Phe174Leu) rs137852636 0.00004
NM_005518.4(HMGCS2):c.1175C>T (p.Ser392Leu) rs766097440 0.00001
NM_005518.4(HMGCS2):c.1187+1G>C rs764706394 0.00001
NM_005518.4(HMGCS2):c.1502G>A (p.Arg501Gln)
NM_005518.4(HMGCS2):c.719A>T (p.Asp240Val)

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