ClinVar Miner

List of variants reported as pathogenic for inborn disorder of branched-chain amino acid metabolism by 3billion, Medical Genetics

Included ClinVar conditions (11):

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_183050.4(BCKDHB):c.853C>T (p.Arg285Ter)	rs398124598	0.00015
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys)	rs121918329	0.00001

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