ClinVar Miner

List of variants in gene BCKDHA reported as pathogenic for amino acid metabolism disease

Included ClinVar conditions (436):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 110
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HGVS dbSNP gnomAD frequency
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn) rs137852870 0.00013
NM_000709.4(BCKDHA):c.853G>C (p.Ala285Pro) rs398123508 0.00009
NM_000709.4(BCKDHA):c.137C>A (p.Ser46Ter) rs376456598 0.00003
NM_000709.4(BCKDHA):c.288+9C>T rs398123497 0.00003
NM_000709.4(BCKDHA):c.370C>T (p.Arg124Trp) rs398123499 0.00003
NM_000709.4(BCKDHA):c.890G>A (p.Arg297His) rs200137189 0.00003
NM_000709.4(BCKDHA):c.1087C>T (p.Arg363Trp) rs942815730 0.00002
NM_000709.4(BCKDHA):c.288+1G>A rs398123496 0.00002
NM_000709.4(BCKDHA):c.565C>T (p.Arg189Cys) rs886042356 0.00002
NM_000709.4(BCKDHA):c.659C>T (p.Ala220Val) rs375785084 0.00002
NM_000709.4(BCKDHA):c.889C>T (p.Arg297Cys) rs145901144 0.00002
NM_000709.4(BCKDHA):c.1036C>T (p.Arg346Cys) rs182923857 0.00001
NM_000709.4(BCKDHA):c.1037G>A (p.Arg346His) rs398123486 0.00001
NM_000709.4(BCKDHA):c.1061G>A (p.Trp354Ter) rs1214763792 0.00001
NM_000709.4(BCKDHA):c.1069C>T (p.Gln357Ter) rs762199542 0.00001
NM_000709.4(BCKDHA):c.1234G>A (p.Val412Met) rs398123490 0.00001
NM_000709.4(BCKDHA):c.127C>T (p.Gln43Ter) rs374625613 0.00001
NM_000709.4(BCKDHA):c.130C>T (p.Gln44Ter) rs1220443382 0.00001
NM_000709.4(BCKDHA):c.475C>T (p.Arg159Trp) rs769688327 0.00001
NM_000709.4(BCKDHA):c.476G>A (p.Arg159Gln) rs773048903 0.00001
NM_000709.4(BCKDHA):c.632C>T (p.Thr211Met) rs398123503 0.00001
NM_000709.4(BCKDHA):c.647-1G>C rs753216964 0.00001
NM_000709.4(BCKDHA):c.647C>T (p.Ala216Val) rs369448982 0.00001
NM_000709.4(BCKDHA):c.745G>A (p.Gly249Ser) rs137852874 0.00001
NM_000709.4(BCKDHA):c.757G>A (p.Ala253Thr) rs199599175 0.00001
NM_000709.4(BCKDHA):c.793C>T (p.Arg265Trp) rs137852873 0.00001
NM_000709.4(BCKDHA):c.854-2A>G rs760494152 0.00001
NM_000709.4(BCKDHA):c.868G>A (p.Gly290Arg) rs137852871 0.00001
NM_000709.4(BCKDHA):c.884C>A (p.Ser295Ter) rs1318419473 0.00001
NM_000709.4(BCKDHA):c.929C>G (p.Thr310Arg) rs137852875 0.00001
NM_000709.4(BCKDHA):c.940C>T (p.Arg314Ter) rs753698250 0.00001
NM_000709.4(BCKDHA):c.979G>A (p.Glu327Lys) rs398123515 0.00001
NC_000019.10:g.(?_41397818)_(41414167_?)del
NC_000019.10:g.(?_41424428)_(41424831_?)del
NC_000019.9:g.(?_41903723)_(41903850_?)del
NC_000019.9:g.(?_41903723)_(41916924_?)del
NC_000019.9:g.(?_41903723)_(41930736_?)del
NC_000019.9:g.(?_41916532)_(41920072_?)del
NC_000019.9:g.(?_41925030)_(41930736_?)del
NM_000709.4(BCKDHA):c.1008_1015del (p.His336fs) rs1330793674
NM_000709.4(BCKDHA):c.1028C>G (p.Ser343Ter) rs774735002
NM_000709.4(BCKDHA):c.109-1G>A rs2123253583
NM_000709.4(BCKDHA):c.1110_1119del (p.Gln371fs) rs1599962569
NM_000709.4(BCKDHA):c.1119G>A (p.Trp373Ter) rs765543886
NM_000709.4(BCKDHA):c.1121G>A (p.Trp374Ter)
NM_000709.4(BCKDHA):c.1137del (p.Lys380fs)
NM_000709.4(BCKDHA):c.1167+1del rs1555767169
NM_000709.4(BCKDHA):c.1168-2A>G rs1555767285
NM_000709.4(BCKDHA):c.116_117dup (p.Arg40fs) rs398123489
NM_000709.4(BCKDHA):c.117del (p.Arg40fs) rs398123489
NM_000709.4(BCKDHA):c.117dup (p.Arg40fs) rs398123489
NM_000709.4(BCKDHA):c.1198A>T (p.Lys400Ter) rs863225262
NM_000709.4(BCKDHA):c.1226T>G (p.Phe409Cys) rs137852872
NM_000709.4(BCKDHA):c.1237dup (p.Tyr413fs)
NM_000709.4(BCKDHA):c.1280_1282del (p.Leu427_Ala428delinsPro) rs755691417
NM_000709.4(BCKDHA):c.12_13insGACGGGCGAGGTGGCTCACGCCTGAAATCCCAGCACTATGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGATGGCGGTAGCG (p.Ile5fs)
NM_000709.4(BCKDHA):c.1306G>T (p.Glu436Ter) rs1298823471
NM_000709.4(BCKDHA):c.1310_1311del (p.His437fs) rs398123492
NM_000709.4(BCKDHA):c.143del (p.Leu48fs) rs1555765593
NM_000709.4(BCKDHA):c.14del (p.Ile5fs) rs398123494
NM_000709.4(BCKDHA):c.253C>T (p.Gln85Ter)
NM_000709.4(BCKDHA):c.277G>T (p.Glu93Ter)
NM_000709.4(BCKDHA):c.318C>G (p.Tyr106Ter)
NM_000709.4(BCKDHA):c.319A>T (p.Lys107Ter)
NM_000709.4(BCKDHA):c.332T>C (p.Leu111Pro) rs1568503938
NM_000709.4(BCKDHA):c.33G>A (p.Trp11Ter) rs1207966026
NM_000709.4(BCKDHA):c.347A>G (p.Asp116Gly) rs398123498
NM_000709.4(BCKDHA):c.357_358del (p.Leu119_Tyr120insTer) rs2123254646
NM_000709.4(BCKDHA):c.367C>T (p.Gln123Ter) rs2039247540
NM_000709.4(BCKDHA):c.379C>T (p.Arg127Trp)
NM_000709.4(BCKDHA):c.399delinsAA (p.Asn134fs) rs1057519059
NM_000709.4(BCKDHA):c.402del (p.Tyr135fs)
NM_000709.4(BCKDHA):c.410_426dup (p.Gly143fs)
NM_000709.4(BCKDHA):c.416del (p.Gly139fs)
NM_000709.4(BCKDHA):c.41del (p.Asn14fs)
NM_000709.4(BCKDHA):c.454G>A (p.Asp152Asn) rs2122122610
NM_000709.4(BCKDHA):c.470A>C (p.Gln157Pro) rs869312125
NM_000709.4(BCKDHA):c.507C>G (p.Tyr169Ter)
NM_000709.4(BCKDHA):c.511del (p.Leu171fs) rs762084007
NM_000709.4(BCKDHA):c.529C>T (p.Gln177Ter)
NM_000709.4(BCKDHA):c.554del (p.Leu185fs) rs1568506608
NM_000709.4(BCKDHA):c.55C>T (p.Gln19Ter)
NM_000709.4(BCKDHA):c.644_645del (p.Gln215fs)
NM_000709.4(BCKDHA):c.653G>C (p.Gly218Ala) rs2039372961
NM_000709.4(BCKDHA):c.659del (p.Ala220fs)
NM_000709.4(BCKDHA):c.661_664del (p.Tyr221fs) rs796051938
NM_000709.4(BCKDHA):c.663del (p.Ala220_Tyr221insTer) rs2122142757
NM_000709.4(BCKDHA):c.67del (p.Leu23fs)
NM_000709.4(BCKDHA):c.699_700del (p.Ile233fs)
NM_000709.4(BCKDHA):c.701_702del (p.Cys234fs) rs2122142979
NM_000709.4(BCKDHA):c.712G>T (p.Glu238Ter) rs1303770209
NM_000709.4(BCKDHA):c.718del (p.Ala240fs) rs1555766993
NM_000709.4(BCKDHA):c.740A>G (p.His247Arg) rs1468416468
NM_000709.4(BCKDHA):c.741dup (p.Ala248fs) rs398123504
NM_000709.4(BCKDHA):c.761C>A (p.Ala254Asp) rs373713279
NM_000709.4(BCKDHA):c.773_774delinsAA (p.Cys258Ter) rs2122143379
NM_000709.4(BCKDHA):c.776C>T (p.Pro259Leu) rs2122143393
NM_000709.4(BCKDHA):c.782TCT[2] (p.Phe263del) rs398123505
NM_000709.4(BCKDHA):c.78del (p.Gln27fs) rs2123232769
NM_000709.4(BCKDHA):c.792C>G (p.Cys264Trp) rs137852876
NM_000709.4(BCKDHA):c.794G>A (p.Arg265Gln) rs761996996
NM_000709.4(BCKDHA):c.794G>C (p.Arg265Pro) rs761996996
NM_000709.4(BCKDHA):c.796_797delinsT (p.Asn266fs)
NM_000709.4(BCKDHA):c.835del (p.Tyr279fs)
NM_000709.4(BCKDHA):c.844G>C (p.Asp282His) rs869312124
NM_000709.4(BCKDHA):c.859C>T (p.Arg287Ter) rs764247545
NM_000709.4(BCKDHA):c.861_868del (p.Gly288fs) rs794727847
NM_000709.4(BCKDHA):c.905A>C (p.Asp302Ala) rs398123509
NM_000709.4(BCKDHA):c.909_910del (p.Phe304fs) rs398123510
NM_000709.4(BCKDHA):c.964C>T (p.Gln322Ter) rs398123513

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