List of variants in gene BCKDHB reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser)	rs386834233	0.00061
NM_183050.4(BCKDHB):c.987C>T (p.His329=)	rs138670449	0.00019
NM_183050.4(BCKDHB):c.168C>T (p.Phe56=)	rs747705382	0.00013
NM_183050.4(BCKDHB):c.502C>T (p.Arg168Cys)	rs398124579	0.00004
NM_183050.4(BCKDHB):c.633+1G>A	rs398124589	0.00001
NM_183050.4(BCKDHB):c.861A>G (p.Val287=)	rs1358699136	0.00001
NM_183050.4(BCKDHB):c.163_166dup (p.Phe56fs)
NM_183050.4(BCKDHB):c.187del (p.Arg63fs)
NM_183050.4(BCKDHB):c.475C>A (p.Gln159Lys)
NM_183050.4(BCKDHB):c.51A>G (p.Ala17=)	rs376293687
NM_183050.4(BCKDHB):c.547C>T (p.Arg183Trp)	rs149766077
NM_183050.4(BCKDHB):c.551C>T (p.Ser184Phe)
NM_183050.4(BCKDHB):c.704G>A (p.Cys235Tyr)	rs911181994
NM_183050.4(BCKDHB):c.731A>C (p.Tyr244Ser)	rs2127779345
NM_183050.4(BCKDHB):c.995C>T (p.Pro332Leu)	rs1554205541
NM_183050.4(BCKDHB):c.998T>G (p.Leu333Trp)

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.