ClinVar Miner

List of variants studied for inborn disorder of branched-chain amino acid metabolism by Centre for Inherited Metabolic Diseases, Karolinska University Hospital

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser) rs386834233 0.00061
NM_183050.4(BCKDHB):c.853C>T (p.Arg285Ter) rs398124598 0.00015
NM_001918.5(DBT):c.252G>T (p.Trp84Cys) rs200638406 0.00003
NM_001918.5(DBT):c.5C>T (p.Ala2Val) rs398123672 0.00001
NM_001918.5(DBT):c.1184C>T (p.Thr395Ile) rs1661797765
NM_001918.5(DBT):c.1209+1G>A rs1661795778

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