ClinVar Miner

List of variants reported as pathogenic for Deficiency of hydroxymethylglutaryl-CoA lyase by Integrated Genetics/Laboratory Corporation of America

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Total variants: 4
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NM_000191.3(HMGCL):c.109G>T (p.Glu37Ter) rs763494292
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln) rs121964997
NM_000191.3(HMGCL):c.698A>G (p.His233Arg) rs727503963
NM_000191.3(HMGCL):c.914_915del (p.Phe305fs) rs786205431

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