List of variants in gene PDHA1 reported by ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen

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: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000284.4(PDHA1):c.795A>G (p.Ala265=)	rs1126565	0.28594
NM_000284.4(PDHA1):c.844A>C (p.Met282Leu)	rs2229137	0.00715
NM_000284.4(PDHA1):c.999A>C (p.Glu333Asp)	rs2228067	0.00124
NM_000284.4(PDHA1):c.1132C>T (p.Arg378Cys)	rs863224147
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs)	rs606231189
NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys)	rs863224148
NM_000284.4(PDHA1):c.506C>T (p.Ala169Val)	rs863224150
NM_000284.4(PDHA1):c.839T>G (p.Ile280Ser)	rs1602229682
NM_000284.4(PDHA1):c.910C>T (p.Arg304Ter)

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.