ClinVar Miner

List of variants in gene SFTPC studied for infectious disease

Included ClinVar conditions (51):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 34
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001317778.2(SFTPC):c.43-7G>A rs79440568 0.00801
NM_003018.3(SFTPC):c.-91C>T rs77253713 0.00704
NM_003018.3(SFTPC):c.-92C>G rs79647630 0.00682
NM_001317778.2(SFTPC):c.18+13G>A rs74515418 0.00511
NM_001317778.2(SFTPC):c.482G>A (p.Arg161Gln) rs34957318 0.00417
NM_001317778.2(SFTPC):c.288C>T (p.Ile96=) rs79866047 0.00289
NM_001317778.2(SFTPC):c.228G>C (p.Pro76=) rs75413490 0.00124
NM_001317778.2(SFTPC):c.24C>G (p.Val8=) rs144603526 0.00083
NM_001317778.2(SFTPC):c.42G>A (p.Pro14=) rs199905878 0.00055
NM_001317778.2(SFTPC):c.523C>G (p.Leu175Val) rs201685063 0.00041
NM_001317778.2(SFTPC):c.552C>T (p.Gly184=) rs529959941 0.00029
NM_001317778.2(SFTPC):c.*12T>A rs200469074 0.00027
NM_003018.3(SFTPC):c.-56_-55dup rs545529507 0.00013
NM_001317778.2(SFTPC):c.*193C>A rs886062816 0.00012
NM_001317778.2(SFTPC):c.445G>C (p.Ala149Pro) rs202145169 0.00012
NM_001317778.2(SFTPC):c.157G>A (p.Ala53Thr) rs200039720 0.00011
NM_001317778.2(SFTPC):c.18+12G>A rs202194863 0.00011
NM_001317778.2(SFTPC):c.176A>G (p.His59Arg) rs201567623 0.00010
NM_001317778.2(SFTPC):c.303C>T (p.Leu101=) rs370825102 0.00004
NM_001317778.2(SFTPC):c.*171G>A rs1352249630 0.00003
NM_001317778.2(SFTPC):c.505G>A (p.Gly169Arg) rs766093799 0.00002
NM_001317778.2(SFTPC):c.*186G>A rs892113541 0.00001
NM_001317778.2(SFTPC):c.142G>A (p.Val48Met) rs566914013 0.00001
NM_001317778.2(SFTPC):c.-26GAG[1] rs773257848
NM_001317778.2(SFTPC):c.115G>T (p.Val39Leu) rs183533911
NM_001317778.2(SFTPC):c.228G>A (p.Pro76=) rs75413490
NM_001317778.2(SFTPC):c.237G>A (p.Gln79=) rs957889901
NM_001317778.2(SFTPC):c.316T>C (p.Tyr106His) rs1586421317
NM_001317778.2(SFTPC):c.351T>G (p.Pro117=) rs35457216
NM_001317778.2(SFTPC):c.418A>T (p.Lys140Ter)
NM_001317778.2(SFTPC):c.436-15G>A rs374909143
NM_001317778.2(SFTPC):c.445G>T (p.Ala149Ser) rs202145169
NM_001317778.2(SFTPC):c.68G>A (p.Arg23Gln) rs75902455
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.