List of variants studied for Pyruvate dehydrogenase E1-beta deficiency by Baylor Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000925.4(PDHB):c.426A>G (p.Ile142Met)	rs151247980	0.00005
NM_000925.4(PDHB):c.301A>G (p.Met101Val)	rs747573712	0.00003
NM_000925.4(PDHB):c.956A>T (p.Asp319Val)	rs199983136	0.00002
NM_000925.4(PDHB):c.352C>T (p.Gln118Ter)	rs1019990431	0.00001
NM_000925.4(PDHB):c.122_123del (p.Gln41fs)	rs778727916
NM_000925.4(PDHB):c.211C>T (p.Arg71Ter)	rs373124742
NM_000925.4(PDHB):c.238_239del (p.Lys80fs)	rs1390415306
NM_000925.4(PDHB):c.469C>T (p.Gln157Ter)	rs2471367783
NM_000925.4(PDHB):c.607G>T (p.Glu203Ter)	rs767832452
NM_000925.4(PDHB):c.669dup (p.Pro224fs)	rs2471366690
NM_000925.4(PDHB):c.716_717del (p.Val239fs)	rs772084220
NM_000925.4(PDHB):c.892_893del (p.Gln298fs)	rs2471363712
NM_000925.4(PDHB):c.934+1G>A	rs1454439049

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.