ClinVar Miner

List of variants in gene TNNI2 reported as uncertain significance for congenital limb malformation

Included ClinVar conditions (335):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003282.4(TNNI2):c.54G>C (p.Leu18=) rs181679318 0.00036
NM_003282.4(TNNI2):c.216C>T (p.Ile72=) rs777907501 0.00035
NM_003282.4(TNNI2):c.387G>A (p.Ser129=) rs139399106 0.00034
NM_003282.4(TNNI2):c.61G>A (p.Val21Met) rs200110633 0.00019
NM_003282.4(TNNI2):c.276+15C>T rs200628572 0.00011
NM_003282.4(TNNI2):c.-50G>A rs776016888 0.00006
NM_003282.4(TNNI2):c.276+12C>T rs368363208 0.00005
NM_003282.4(TNNI2):c.*27C>T rs543012338 0.00004
NM_003282.4(TNNI2):c.*28G>A rs201612866 0.00004
NM_003282.4(TNNI2):c.171C>A (p.Ser57=) rs753364763 0.00003
NM_003282.4(TNNI2):c.-68C>T rs370130164 0.00002
NM_003282.4(TNNI2):c.149C>T (p.Pro50Leu) rs778403065 0.00002
NM_003282.4(TNNI2):c.159T>C (p.His53=) rs770213642 0.00001
NM_003282.4(TNNI2):c.275_276+1del
NM_003282.4(TNNI2):c.368T>C (p.Leu123Pro) rs2133035437
NM_003282.4(TNNI2):c.530T>C (p.Met177Thr) rs1847183050
NM_003282.4(TNNI2):c.532T>A (p.Phe178Ile) rs2133036152
NM_003282.4(TNNI2):c.9-1G>C

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.