List of variants in gene CSF2RA reported as benign for surfactant metabolism dysfunction, pulmonary, 4

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 25

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_172245.4(CSF2RA):c.473+16_473+17del	rs36125646	0.45949
NM_172245.4(CSF2RA):c.999G>A (p.Val333=)	rs28460440	0.37040
NM_172245.4(CSF2RA):c.50C>G (p.Ala17Gly)	rs67006588	0.20721
NM_172245.4(CSF2RA):c.219+19T>G	rs28716068	0.19359
NM_172245.4(CSF2RA):c.646+18G>T	rs73618037	0.12528
NM_172245.4(CSF2RA):c.*9G>A	rs2229236	0.08526
NM_172245.4(CSF2RA):c.561G>A (p.Thr187=)	rs73618036	0.02880
NM_172245.4(CSF2RA):c.425C>T (p.Pro142Leu)	rs151058706	0.01345
NM_172245.4(CSF2RA):c.223A>G (p.Ser75Gly)	rs149059494	0.01010
NM_001161529.1(CSF2RA):c.491G>A (p.Arg164Gln)	rs138964358	0.00550
NM_172245.4(CSF2RA):c.300T>C (p.Thr100=)	rs144521208	0.00349
NM_172245.4(CSF2RA):c.549G>C (p.Leu183=)	rs139093878	0.00280
NM_172245.4(CSF2RA):c.647-7G>A	rs189869234	0.00195
NM_172245.4(CSF2RA):c.1125+17G>A	rs190093862	0.00168
NM_172245.4(CSF2RA):c.279A>G (p.Thr93=)	rs140581875	0.00155
NM_172245.4(CSF2RA):c.540G>A (p.Leu180=)	rs112441738	0.00123
NM_172245.4(CSF2RA):c.473+12C>T	rs769676035	0.00074
NM_172245.4(CSF2RA):c.393G>A (p.Ala131=)	rs143104828	0.00071
NM_172245.4(CSF2RA):c.967G>A (p.Gly323Ser)	rs149884748	0.00064
NM_172245.4(CSF2RA):c.946+13C>T	rs151211176	0.00057
NM_172245.4(CSF2RA):c.681T>C (p.Arg227=)	rs186487689	0.00010
NM_172245.4(CSF2RA):c.693G>A (p.Thr231=)	rs769104113	0.00001
NM_172245.4(CSF2RA):c.1071G>A (p.Pro357=)	rs56960778
NM_172245.4(CSF2RA):c.647-13G>A	rs201508841
NM_172245.4(CSF2RA):c.774_780+10dup	rs377345813

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.