ClinVar Miner

List of variants in gene SFTPA1 reported as uncertain significance by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005411.5(SFTPA1):c.724C>T (p.Arg242Ter) rs4253528 0.00013
NM_005411.5(SFTPA1):c.577C>T (p.Pro193Ser) rs139806726 0.00011
NM_005411.5(SFTPA1):c.649G>A (p.Ala217Thr) rs876658000 0.00002
NM_005411.5(SFTPA1):c.135C>G (p.Asp45Glu) rs200941736
NM_005411.5(SFTPA1):c.626C>A (p.Thr209Asn) rs1554854656
NM_005411.5(SFTPA1):c.646C>G (p.Pro216Ala) rs876657998
NM_005411.5(SFTPA1):c.677A>G (p.Glu226Gly) rs876657999

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.