ClinVar Miner

List of variants studied for pulmonary fibrosis by Degerman lab, Umeå University

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_198253.3(TERT):c.2051A>G (p.Asp684Gly) rs776981958 0.00013
NM_198253.3(TERT):c.2287-5G>A rs561426406 0.00005
NM_198253.3(TERT):c.1892G>A (p.Arg631Gln) rs199422294
NM_198253.3(TERT):c.3399A>G (p.Ter1133Trp) rs1554038048
NR_001566.1(TERC):n.407_408delinsAA rs1553915580
NR_001566.3(TERC):n.107G>T rs1553915617
NR_001566.3(TERC):n.118_121GCGG[1] rs1553915612
NR_001566.3(TERC):n.69_74dup rs1553915621

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.