ClinVar Miner

List of variants studied 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: 88
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005881.4(BCKDK):c.615G>A (p.Thr205=) rs14235 0.30943
NM_005881.4(BCKDK):c.845+10C>T rs74015068 0.00955
NM_005881.4(BCKDK):c.181G>T (p.Ala61Ser) rs73530211 0.00299
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.249C>T (p.Asp83=) rs138821043 0.00055
NM_005881.4(BCKDK):c.1066A>T (p.Ser356Cys) rs142542453 0.00035
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.552G>C (p.Lys184Asn) rs774214869 0.00015
NM_005881.4(BCKDK):c.544-10C>T rs370950849 0.00014
NM_005881.4(BCKDK):c.588G>A (p.Ser196=) rs150773521 0.00014
NM_005881.4(BCKDK):c.1131G>A (p.Ala377=) rs151090898 0.00013
NM_005881.4(BCKDK):c.692T>C (p.Ile231Thr) rs200689545 0.00011
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.851C>T (p.Thr284Ile) rs371078966 0.00007
NM_005881.4(BCKDK):c.373G>A (p.Val125Met) rs141282419 0.00006
NM_005881.4(BCKDK):c.556G>A (p.Val186Ile) rs188092823 0.00006
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.10G>C (p.Ala4Pro) rs775430762 0.00001
NM_005881.4(BCKDK):c.1116G>A (p.Thr372=) rs111551851 0.00001
NM_005881.4(BCKDK):c.1159C>T (p.Gln387Ter) rs1035318937 0.00001
NM_005881.4(BCKDK):c.1196G>A (p.Arg399Gln) rs766922526 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.305T>C (p.Ile102Thr) rs556255123 0.00001
NM_005881.4(BCKDK):c.372C>T (p.His124=) rs148112682 0.00001
NM_005881.4(BCKDK):c.466C>T (p.Arg156Ter) rs397514573 0.00001
NM_005881.4(BCKDK):c.529C>T (p.Arg177Trp) rs774302251 0.00001
NM_005881.4(BCKDK):c.563A>G (p.Tyr188Cys) rs761322791 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.847G>A (p.Ala283Thr) rs760851100 0.00001
NM_005881.4(BCKDK):c.86C>T (p.Ala29Val) rs762482788 0.00001
NM_005881.4(BCKDK):c.904A>G (p.Ile302Val) rs201164597 0.00001
NM_005881.4(BCKDK):c.917A>G (p.Asp306Gly) rs200253972 0.00001
NM_005881.4(BCKDK):c.1010A>G (p.Glu337Gly) rs199838222
NM_005881.4(BCKDK):c.1065T>C (p.His355=) rs1381365816
NM_005881.4(BCKDK):c.1094+7C>A
NM_005881.4(BCKDK):c.117C>G (p.His39Gln)
NM_005881.4(BCKDK):c.1182G>A (p.Thr394=)
NM_005881.4(BCKDK):c.1195C>A (p.Arg399=)
NM_005881.4(BCKDK):c.1202G>A (p.Arg401His)
NM_005881.4(BCKDK):c.193A>G (p.Lys65Glu) rs1596808163
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.196-8del rs1596808347
NM_005881.4(BCKDK):c.219C>G (p.Thr73=)
NM_005881.4(BCKDK):c.222del (p.Met74fs) rs2057392733
NM_005881.4(BCKDK):c.264+1G>C
NM_005881.4(BCKDK):c.31C>T (p.Pro11Ser) rs764651763
NM_005881.4(BCKDK):c.347T>C (p.Ile116Thr) rs746459006
NM_005881.4(BCKDK):c.34G>A (p.Gly12Arg) rs1414828775
NM_005881.4(BCKDK):c.364A>G (p.Ile122Val)
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.453C>G (p.Tyr151Ter) rs369521689
NM_005881.4(BCKDK):c.500C>A (p.Thr167Asn) rs2057399952
NM_005881.4(BCKDK):c.50_71del (p.Leu17fs) rs2143936992
NM_005881.4(BCKDK):c.516C>A (p.Gly172=)
NM_005881.4(BCKDK):c.519A>G (p.Leu173=)
NM_005881.4(BCKDK):c.544-8C>G rs1337089151
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.671G>C (p.Arg224Pro) rs147210405
NM_005881.4(BCKDK):c.716+18C>T
NM_005881.4(BCKDK):c.743A>G (p.Asn248Ser)
NM_005881.4(BCKDK):c.78G>C (p.Ala26=) rs527999176
NM_005881.4(BCKDK):c.793A>C (p.Ile265Leu) rs2057409516
NM_005881.4(BCKDK):c.846-3T>A rs118042732
NM_005881.4(BCKDK):c.846-3T>C rs118042732
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=)
NM_005881.4(BCKDK):c.979C>T (p.Arg327Trp)
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.