ClinVar Miner

List of variants reported as pathogenic for Deficiency of hydroxymethylglutaryl-CoA lyase by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter)	rs770225915	0.00001
NM_000191.3(HMGCL):c.610del (p.Asp204fs)	rs2148419170

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