ClinVar Miner

List of variants reported as likely benign for Branched-chain keto acid dehydrogenase kinase deficiency

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_005881.4(BCKDK):c.717-15C>T rs201213741 0.00072
NM_005881.4(BCKDK):c.1218G>A (p.Arg406=) rs145180240 0.00063
NM_005881.4(BCKDK):c.822G>A (p.Pro274=) rs55884792 0.00022
NM_005881.4(BCKDK):c.1185C>T (p.Asp395=) rs141335706 0.00021
NM_005881.4(BCKDK):c.588G>A (p.Ser196=) rs150773521 0.00014
NM_005881.4(BCKDK):c.1104C>T (p.Phe368=) rs201614853 0.00009
NM_005881.4(BCKDK):c.936-10A>G rs374677650 0.00008
NM_005881.4(BCKDK):c.721C>T (p.Leu241=) rs374121679 0.00007
NM_005881.4(BCKDK):c.262C>T (p.Leu88=) rs141938310 0.00004
NM_005881.4(BCKDK):c.654C>T (p.Val218=) rs368040635 0.00003
NM_005881.4(BCKDK):c.717-4G>A rs200045337 0.00002
NM_005881.4(BCKDK):c.1068T>C (p.Ser356=) rs767003668 0.00001
NM_005881.4(BCKDK):c.1116G>A (p.Thr372=) rs111551851 0.00001
NM_005881.4(BCKDK):c.120G>A (p.Val40=) rs933735430 0.00001
NM_005881.4(BCKDK):c.15G>C (p.Ser5=) rs753378449 0.00001
NM_005881.4(BCKDK):c.372C>T (p.His124=) rs148112682 0.00001
NM_005881.4(BCKDK):c.66A>T (p.Gly22=) rs775340971 0.00001
NM_005881.4(BCKDK):c.717-5C>T rs1291981908 0.00001
NM_005881.4(BCKDK):c.1065T>C (p.His355=) rs1381365816
NM_005881.4(BCKDK):c.1094+7C>A
NM_005881.4(BCKDK):c.1182G>A (p.Thr394=)
NM_005881.4(BCKDK):c.1195C>A (p.Arg399=)
NM_005881.4(BCKDK):c.195+10G>A rs1467318514
NM_005881.4(BCKDK):c.196-14del
NM_005881.4(BCKDK):c.196-4C>T
NM_005881.4(BCKDK):c.219C>G (p.Thr73=)
NM_005881.4(BCKDK):c.375+14G>A
NM_005881.4(BCKDK):c.376-13C>T
NM_005881.4(BCKDK):c.384A>G (p.Leu128=)
NM_005881.4(BCKDK):c.424-18T>C
NM_005881.4(BCKDK):c.424-20C>T
NM_005881.4(BCKDK):c.516C>A (p.Gly172=)
NM_005881.4(BCKDK):c.519A>G (p.Leu173=)
NM_005881.4(BCKDK):c.54G>A (p.Arg18=)
NM_005881.4(BCKDK):c.555C>T (p.Leu185=)
NM_005881.4(BCKDK):c.561C>T (p.Arg187=)
NM_005881.4(BCKDK):c.645T>G (p.Pro215=)
NM_005881.4(BCKDK):c.716+18C>T
NM_005881.4(BCKDK):c.78G>C (p.Ala26=) rs527999176
NM_005881.4(BCKDK):c.846-8C>T
NM_005881.4(BCKDK):c.936-11C>A
NM_005881.4(BCKDK):c.960C>T (p.Ile320=)
NM_005881.4(BCKDK):c.972T>C (p.Asp324=)

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