ClinVar Miner

List of variants studied for Deficiency of hydroxymethylglutaryl-CoA lyase by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln) rs121964997 0.00004
NM_000191.3(HMGCL):c.914_915del (p.Phe305fs) rs786205431

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