List of variants in gene PDP1 studied for Pyruvate dehydrogenase phosphatase deficiency

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: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_018444.4(PDP1):c.*36T>C	rs4735258	0.42976
NM_018444.4(PDP1):c.1649_1650insG	rs886063184	0.00099
NM_018444.4(PDP1):c.202G>A (p.Gly68Arg)	rs374758737	0.00005
NM_018444.4(PDP1):c.1355A>G (p.Lys452Arg)	rs749767366	0.00002
NM_018444.4(PDP1):c.*1661del	rs60316663
NM_018444.4(PDP1):c.*724del	rs886063179
NM_018444.4(PDP1):c.*898CTT[1]	rs756226872
NM_018444.4(PDP1):c.277G>T (p.Glu93Ter)	rs267606938
NM_018444.4(PDP1):c.500dup (p.Leu167fs)	rs1810312864
NM_018444.4(PDP1):c.851_853del (p.Leu284del)	rs1554572756

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.