ClinVar Miner

List of variants in gene TMEM43 reported by Integrated Genetics/Laboratory Corporation of America

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
Download table as spreadsheet
NM_024334.2(TMEM43):c.1001-3C>T rs1553603640
NM_024334.2(TMEM43):c.1073C>T (p.Ser358Leu) rs63750743
NM_024334.2(TMEM43):c.1150C>G (p.Leu384Val) rs193922706
NM_024334.2(TMEM43):c.163-14C>T rs113745859
NM_024334.2(TMEM43):c.163-3delC rs371706980
NM_024334.2(TMEM43):c.286C>G (p.Arg96Gly) rs754797146
NM_024334.2(TMEM43):c.347G>A (p.Arg116Gln) rs143535006
NM_024334.2(TMEM43):c.578C>T (p.Ser193Leu) rs140380494
NM_024334.2(TMEM43):c.684C>T (p.Ser228=) rs371019231
NM_024334.2(TMEM43):c.705+7G>A rs201916031
NM_024334.2(TMEM43):c.797G>A (p.Arg266Gln) rs193922707
NM_024334.2(TMEM43):c.896G>C (p.Arg299Thr) rs139590716
NM_024334.2(TMEM43):c.921G>A (p.Lys307=) rs201771608
NM_024334.2(TMEM43):c.934C>T (p.Arg312Trp) rs113449357
NM_024334.2(TMEM43):c.99G>A (p.Ser33=) rs147710692

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.