ClinVar Miner

List of variants reported as likely benign for pulmonary fibrosis by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NR_001566.3(TERC):n.58G>A rs113487931 0.01733
NM_002458.3(MUC5B):c.3834C>T (p.Thr1278=) rs55913363 0.01285
NM_017612.5(ZCCHC8):c.1345+5G>A rs116783031 0.01008
NR_001566.3(TERC):n.228G>A rs141686314 0.00478
NM_198253.3(TERT):c.1574-7G>A rs34846301 0.00220
NM_198253.3(TERT):c.1932G>A (p.Thr644=) rs148582238 0.00031
NM_002458.3(MUC5B):c.3926C>T (p.Thr1309Met) rs200226020 0.00030
NM_198253.3(TERT):c.2079C>T (p.Phe693=) rs371759577 0.00011
NM_001283009.2(RTEL1):c.3546G>A (p.Ser1182=) rs774018403 0.00004
NM_198253.3(TERT):c.2190C>T (p.Ala730=) rs138128892 0.00003
NM_001283009.2(RTEL1):c.1266+11C>T rs2090575166 0.00001
NM_198253.3(TERT):c.3303G>A (p.Thr1101=) rs551516320 0.00001
NM_198253.3(TERT):c.375C>T (p.Asn125=) rs1751256209 0.00001
NM_198253.3(TERT):c.1110C>G (p.Pro370=) rs1579597009

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.