ClinVar Miner

List of variants studied for 3-hydroxy-3-methylglutaryl-CoA synthase deficiency by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_005518.4(HMGCS2):c.1481G>A (p.Arg494Gln)
NM_005518.4(HMGCS2):c.559+5G>A rs2101272766
NM_005518.4(HMGCS2):c.701A>G (p.His234Arg) rs2101262615

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