ClinVar Miner

List of variants in gene PDHX reported as pathogenic for X-linked syndromic intellectual disability

Included ClinVar conditions (163):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP
AJ298105.1:g.61273_107768delins6086
NG_013368.1:g.5604_20276del
NM_003477.2(PDHX):c.1024-1G>A rs724159830
NM_003477.2(PDHX):c.1183-3088_1247+760del
NM_003477.2(PDHX):c.1336C>T (p.Arg446Ter) rs1135402725
NM_003477.2(PDHX):c.44G>A (p.Arg15His) rs387906998
NM_003477.2(PDHX):c.620del (p.Pro207Leufs) rs724159979
NM_003477.2(PDHX):c.641+1G>A rs724159829
NM_003477.2(PDHX):c.742C>T (p.Gln248Ter) rs113309941
NM_003477.2(PDHX):c.87_90del (p.Lys30Glyfs) rs724159828
NM_003477.2(PDHX):c.965_1023del (p.Asp322Alafs) rs1554989996

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.