ClinVar Miner

List of variants in gene BCKDHA reported by PreventionGenetics, part of Exact Sciences

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 33
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000709.4(BCKDHA):c.1221A>G (p.Leu407=) rs4674 0.66668
NM_000709.4(BCKDHA):c.972C>T (p.Phe324=) rs284652 0.66509
NM_000709.4(BCKDHA):c.995+49G>A rs284654 0.63462
NM_000709.4(BCKDHA):c.376-10A>C rs3213861 0.59120
NM_000709.4(BCKDHA):c.995+26C>T rs284653 0.37723
NM_000709.3(BCKDHA):c.-34T>G rs45500792 0.09943
NM_000709.4(BCKDHA):c.116C>A (p.Pro39His) rs11549936 0.07892
NM_000709.4(BCKDHA):c.639C>T (p.Ile213=) rs10404506 0.01970
NM_000709.4(BCKDHA):c.34C>A (p.Arg12=) rs34541442 0.00893
NM_000709.4(BCKDHA):c.452C>T (p.Thr151Met) rs34442879 0.00790
NM_000709.4(BCKDHA):c.975C>T (p.Leu325=) rs55940366 0.00365
NM_000709.4(BCKDHA):c.484+5G>A rs149899007 0.00298
NM_000709.4(BCKDHA):c.376-4C>T rs199725420 0.00084
NM_000709.4(BCKDHA):c.289-5C>T rs200646708 0.00053
NM_000709.4(BCKDHA):c.288C>T (p.His96=) rs148571328 0.00043
NM_000709.4(BCKDHA):c.63C>T (p.Ala21=) rs140322984 0.00038
NM_000709.4(BCKDHA):c.294G>A (p.Pro98=) rs142967869 0.00029
NM_000709.4(BCKDHA):c.375+4C>T rs377496852 0.00025
NM_000709.4(BCKDHA):c.843C>T (p.Gly281=) rs371343548 0.00019
NM_000709.4(BCKDHA):c.420G>A (p.Thr140=) rs143608852 0.00016
NM_000709.4(BCKDHA):c.663C>T (p.Tyr221=) rs151227241 0.00013
NM_000709.4(BCKDHA):c.633G>A (p.Thr211=) rs750729027 0.00003
NM_000709.4(BCKDHA):c.807C>T (p.Tyr269=) rs775754845 0.00003
NM_000709.4(BCKDHA):c.1302C>T (p.Tyr434=) rs398123491 0.00002
NM_000709.4(BCKDHA):c.1224C>T (p.Leu408=) rs368383404 0.00001
NM_000709.4(BCKDHA):c.504C>T (p.Asp168=) rs750857655 0.00001
NM_000709.4(BCKDHA):c.647C>T (p.Ala216Val) rs369448982 0.00001
NM_000709.4(BCKDHA):c.660G>A (p.Ala220=) rs547571406 0.00001
NM_000709.4(BCKDHA):c.114C>G (p.Pro38=) rs11549935
NM_000709.4(BCKDHA):c.114C>T (p.Pro38=) rs11549935
NM_000709.4(BCKDHA):c.648G>A (p.Ala216=)
NM_000709.4(BCKDHA):c.842G>T (p.Gly281Val) rs886054461
NM_000709.4(BCKDHA):c.996-33dup rs3217385

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.