ClinVar Miner

List of variants in gene TINF2 reported as uncertain significance for Revesz syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP
NM_001099274.3(TINF2):c.*53G>A rs886050429
NM_001099274.3(TINF2):c.-223C>G rs886050434
NM_001099274.3(TINF2):c.-277C>G rs886050435
NM_001099274.3(TINF2):c.-50A>G rs886050432
NM_001099274.3(TINF2):c.-93T>C rs886050433
NM_001099274.3(TINF2):c.1074T>C (p.Asp358=) rs886050430
NM_001099274.3(TINF2):c.400-5del rs769170035
NM_001099274.3(TINF2):c.507+5C>T rs761308889
NM_001099274.3(TINF2):c.62A>G (p.Gln21Arg) rs367835995
NM_001099274.3(TINF2):c.682C>T (p.His228Tyr) rs886050431
NM_001099274.3(TINF2):c.767G>A (p.Arg256Gln) rs779837822
NM_012461.3(TINF2):c.-316G>A rs886050436

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.