ClinVar Miner

List of variants studied for inborn disorder of branched-chain amino acid metabolism by Centogene AG - the Rare Disease Company

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000108.5(DLD):c.685G>T (p.Gly229Cys) rs121964990 0.00016
NM_001918.5(DBT):c.939G>C (p.Lys313Asn) rs398123676 0.00001
NM_014362.4(HIBCH):c.386-1G>C rs1203170244

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