ClinVar Miner

List of variants reported as likely pathogenic for inborn disorder of branched-chain amino acid metabolism by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

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_000108.5(DLD):c.684+1G>T	rs780025714	0.00001
NM_014362.4(HIBCH):c.410C>T (p.Ala137Val)	rs1114167288

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