ClinVar Miner

List of variants in gene NDUFA11 studied for X-linked disease

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
Download table as spreadsheet
HGVS dbSNP
NC_000019.10:g.5903990A>G
NM_001193375.2(NDUFA11):c.314-1384dup rs1599691161
NM_175614.4(NDUFA11):c.-300G>A rs563822139
NM_175614.5(NDUFA11):c.*55G>C rs771648754
NM_175614.5(NDUFA11):c.*59C>G rs191571307
NM_175614.5(NDUFA11):c.*63G>A
NM_175614.5(NDUFA11):c.104C>G (p.Thr35Ser)
NM_175614.5(NDUFA11):c.138G>A (p.Pro46=) rs138889960
NM_175614.5(NDUFA11):c.233C>T (p.Ala78Val) rs886054647
NM_175614.5(NDUFA11):c.234C>T (p.Ala78=)
NM_175614.5(NDUFA11):c.288C>T (p.Ala96=)
NM_175614.5(NDUFA11):c.311G>T (p.Arg104Leu) rs199842745
NM_175614.5(NDUFA11):c.345C>T (p.Cys115=) rs536499962
NM_175614.5(NDUFA11):c.48C>T (p.Thr16=) rs146562956
NM_175614.5(NDUFA11):c.64G>T (p.Ala22Ser)
NM_175614.5(NDUFA11):c.97+5G>A rs1348957889

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.