ClinVar Miner

List of variants in gene BCKDK studied for amino acid or protein metabolism disease with epilepsy

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP
NM_005881.3c.222delG
NM_005881.4(BCKDK):c.1066A>T (p.Ser356Cys) rs142542453
NM_005881.4(BCKDK):c.1218G>A (p.Arg406=) rs145180240
NM_005881.4(BCKDK):c.181G>T (p.Ala61Ser) rs73530211
NM_005881.4(BCKDK):c.193A>G (p.Lys65Glu) rs1596808163
NM_005881.4(BCKDK):c.196-8del rs1596808347
NM_005881.4(BCKDK):c.372C>T (p.His124=) rs148112682
NM_005881.4(BCKDK):c.373G>A (p.Val125Met) rs141282419
NM_005881.4(BCKDK):c.453C>G (p.Tyr151Ter) rs369521689
NM_005881.4(BCKDK):c.466C>T (p.Arg156Ter) rs397514573
NM_005881.4(BCKDK):c.588G>A (p.Ser196=) rs150773521
NM_005881.4(BCKDK):c.671G>C (p.Arg224Pro) rs147210405
NM_005881.4(BCKDK):c.717-5C>T rs1291981908
NM_005881.4(BCKDK):c.721C>T (p.Leu241=) rs374121679
NM_005881.4(BCKDK):c.845+10C>T rs74015068
NM_005881.4(BCKDK):c.847G>A (p.Ala283Thr) rs760851100
NM_005881.4(BCKDK):c.851C>T (p.Thr284Ile)
NM_005881.4(BCKDK):c.904A>G (p.Ile302Val) rs201164597
NM_005881.4(BCKDK):c.936-10A>G rs374677650

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