ClinVar Miner

List of variants reported as likely pathogenic for Deficiency of hydroxymethylglutaryl-CoA lyase by Genome-Nilou Lab

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000191.3(HMGCL):c.698A>G (p.His233Arg)	rs727503963	0.00004
NM_000191.3(HMGCL):c.230del (p.Val77fs)	rs1638632303
NM_000191.3(HMGCL):c.562-2A>G	rs1553131955

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