ClinVar Miner

List of variants reported as benign for connective tissue neoplasm by Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS)

Included ClinVar conditions (133):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003977.4(AIP):c.100-18C>T rs202156895 0.00359
NM_001370259.2(MEN1):c.913-42G>C rs529037188 0.00013
NM_001370259.2(MEN1):c.784-129T>A rs536461697 0.00001
NM_003977.4(AIP):c.100-6C>A rs539027647 0.00001
NM_001370259.2(MEN1):c.1212C>G (p.Leu404=) rs577268289

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.