ClinVar Miner

List of variants in gene SFTPC reported as likely benign for pulmonary fibrosis

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001317778.2(SFTPC):c.43-7G>A rs79440568 0.00861
NM_001317778.2(SFTPC):c.482G>A (p.Arg161Gln) rs34957318 0.00444
NM_001317778.2(SFTPC):c.288C>T (p.Ile96=) rs79866047 0.00294
NM_001317778.2(SFTPC):c.24C>G (p.Val8=) rs144603526 0.00083
NM_001317778.2(SFTPC):c.42G>A (p.Pro14=) rs199905878 0.00059
NM_001317778.2(SFTPC):c.523C>G (p.Leu175Val) rs201685063 0.00042
NM_001317778.2(SFTPC):c.445G>C (p.Ala149Pro) rs202145169 0.00012
NM_003018.3(SFTPC):c.-56_-55dup rs545529507 0.00012
NM_001317778.2(SFTPC):c.176A>G (p.His59Arg) rs201567623 0.00010
NM_001317778.2(SFTPC):c.*171G>A rs1352249630 0.00003
NM_001317778.2(SFTPC):c.142G>A (p.Val48Met) rs566914013 0.00001
NM_003018.3(SFTPC):c.-67C>T rs377267823

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.