List of variants reported as likely pathogenic for Deficiency of hydroxymethylglutaryl-CoA lyase by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000191.3(HMGCL):c.853del (p.Met284_Leu285insTer)	rs779339230	0.00006
NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter)	rs770225915	0.00001
NC_000001.10:g.(24144074_24146999)_(24147084_24151845)del
NM_000191.3(HMGCL):c.225C>G (p.Ser75Arg)
NM_000191.3(HMGCL):c.230del (p.Val77fs)	rs1638632303
NM_000191.3(HMGCL):c.425C>T (p.Ser142Phe)
NM_000191.3(HMGCL):c.521G>A (p.Cys174Tyr)

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