ClinVar Miner

List of variants in gene combination HMGCS2, LOC122094910 reported as pathogenic for 3-hydroxy-3-methylglutaryl-CoA synthase deficiency

Included ClinVar conditions (1):

3-hydroxy-3-methylglutaryl-CoA synthase deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NC_000001.11:g.(?_119768741)_(119768844_?)del
NM_005518.4(HMGCS2):c.72dup (p.Pro25fs)	rs2101283564

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