List of variants in gene FOXF1 reported as uncertain significance for Alveolar capillary dysplasia with pulmonary venous misalignment

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: 18

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001451.3(FOXF1):c.309_310insT	rs11392376	0.46626
NM_001451.3(FOXF1):c.771G>T (p.Met257Ile)	rs997423935	0.00003
NM_001451.3(FOXF1):c.602G>A (p.Gly201Asp)	rs956913310	0.00002
NM_001451.3(FOXF1):c.636G>C (p.Ser212=)	rs776649998	0.00001
NM_001451.3(FOXF1):c.*1176del	rs397854726
NM_001451.3(FOXF1):c.*123dup	rs886052379
NM_001451.3(FOXF1):c.*1298dup	rs886052386
NM_001451.3(FOXF1):c.310_311insT	rs67178865
NM_001451.3(FOXF1):c.471_472dup	rs56130003
NM_001451.3(FOXF1):c.-2C>T	rs1969543882
NM_001451.3(FOXF1):c.1070A>T (p.His357Leu)	rs1969592363
NM_001451.3(FOXF1):c.166C>T (p.Leu56Phe)	rs1969548621
NM_001451.3(FOXF1):c.36CGG[9] (p.Gly23dup)	rs574179816
NM_001451.3(FOXF1):c.47_48insGCGGCGGCGGCGGGGGAG (p.Gly16_Gly17insArgArgArgArgGlySer)	rs2507450043
NM_001451.3(FOXF1):c.60_62del (p.Gly23del)	rs757668134
NM_001451.3(FOXF1):c.881_902dup (p.Gly302fs)	rs2507451729
NM_001451.3(FOXF1):c.887C>T (p.Ala296Val)
NM_001451.3(FOXF1):c.92C>G (p.Ser31Cys)

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.