List of variants in gene combination MAP3K15, PDHA1 reported as uncertain significance for Pyruvate dehydrogenase E1-alpha deficiency

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: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000284.4(PDHA1):c.*549A>G	rs187525386	0.00126
NM_000284.4(PDHA1):c.*575T>C	rs191995452	0.00114
NM_000284.4(PDHA1):c.*1297G>A	rs778678656	0.00112
NM_000284.4(PDHA1):c.*432C>T	rs754719295	0.00068
NM_000284.4(PDHA1):c.*729G>A	rs376808450	0.00033
NM_000284.4(PDHA1):c.*1306G>A	rs745566169	0.00018
NM_000284.4(PDHA1):c.*1458C>T	rs923765752	0.00016
NM_000284.4(PDHA1):c.*1347C>T	rs1241045421	0.00006
NM_000284.4(PDHA1):c.*1376C>T	rs963546680	0.00001
NM_000284.4(PDHA1):c.*1779A>T	rs758279534	0.00001
NM_000284.4(PDHA1):c.*1624T>C	rs2063283398
NM_001001671.4(MAP3K15):c.3781-7G>C	rs2147195977

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.