ClinVar Miner

List of variants studied for Congenital factor VII deficiency by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_019616.4(F7):c.854G>A (p.Arg285His) rs121964929 0.00009
NM_019616.4(F7):c.868G>A (p.Val290Met) rs201991361 0.00005
NM_019616.4(F7):c.961G>A (p.Gly321Ser) rs1250853566 0.00003
NM_000131.4(F7):c.-61T>G rs1367115848 0.00001
NM_019616.4(F7):c.656C>A (p.Thr219Asn) rs1160146175 0.00001
NM_000131.4(F7):c.-55C>T rs1418012389
NM_019616.4(F7):c.1099T>G (p.Cys367Gly) rs121964934
NM_019616.4(F7):c.64+1005G>A
NM_019616.4(F7):c.686C>T (p.Ala229Val)

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.