ClinVar Miner

List of variants studied for branched-chain keto acid dehydrogenase kinase deficiency by Undiagnosed Diseases Network,NIH

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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NM_005881.4(BCKDK):c.847G>A (p.Ala283Thr) rs760851100
Single allele

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