ClinVar Miner

List of variants reported as uncertain significance for branched-chain keto acid dehydrogenase kinase deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_005881.4(BCKDK):c.193A>G (p.Lys65Glu)
NM_005881.4(BCKDK):c.373G>A (p.Val125Met) rs141282419
NM_005881.4(BCKDK):c.847G>A (p.Ala283Thr) rs760851100
NM_005881.4(BCKDK):c.904A>G (p.Ile302Val) rs201164597
Single allele

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