List of variants in gene BCKDHA reported as uncertain significance by Counsyl

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000709.4(BCKDHA):c.500G>A (p.Arg167Gln)	rs377517768	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.889C>T (p.Arg297Cys)	rs145901144	0.00002
NM_000709.4(BCKDHA):c.1037G>A (p.Arg346His)	rs398123486	0.00001
NM_000709.4(BCKDHA):c.475C>T (p.Arg159Trp)	rs769688327	0.00001
NM_000709.3(BCKDHA):c.111_122del12	rs751877248
NM_000709.4(BCKDHA):c.*223T>A	rs373164531
NM_000709.4(BCKDHA):c.121CAG[5] (p.Gln44dup)	rs756657259
NM_000709.4(BCKDHA):c.1267CAG[1] (p.Gln424del)	rs1555767305
NM_000709.4(BCKDHA):c.1280_1282del (p.Leu427_Ala428delinsPro)	rs755691417
NM_000709.4(BCKDHA):c.562G>T (p.Gly188Trp)	rs1555766625
NM_000709.4(BCKDHA):c.794G>C (p.Arg265Pro)	rs761996996
NM_000709.4(BCKDHA):c.892G>A (p.Val298Met)	rs1253348004

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.