ClinVar Miner

List of variants reported as pathogenic for glutaryl-CoA dehydrogenase deficiency by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (1):

Glutaric aciduria, type 1

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

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp)	rs121434369	0.00019
NM_000159.4(GCDH):c.743C>T (p.Pro248Leu)	rs1057516344	0.00003

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