ClinVar Miner

List of variants reported as pathogenic for 2-hydroxyglutaric aciduria by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (6):

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_005984.5(SLC25A1):c.844C>T (p.Arg282Cys)	rs431905509	0.00003
NM_024884.3(L2HGDH):c.829C>T (p.Arg277Ter)	rs752025180	0.00001

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