ClinVar Miner

List of variants reported as pathogenic for inborn disorder of branched-chain amino acid metabolism by Reproductive Health Research and Development, BGI Genomics

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.685G>T (p.Gly229Cys)	rs121964990	0.00016
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro)	rs79761867	0.00010

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