ClinVar Miner

List of variants studied for coagulation protein disease by GeneReviews

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP
NM_000132.2:c.*8899A>G
NM_000132.3(F8):c.3780C>G (p.Asp1260Glu) rs1800291
NM_000132.3(F8):c.3864A>C (p.Ser1288=) rs1800292
NM_000132.3(F8):c.6769A>G (p.Met2257Val) rs1800297
NM_000133.3(F9):c.1151G>T (p.Arg384Leu) rs137852283
NM_000133.3(F9):c.223C>T (p.Arg75Ter) rs137852227
NM_000602.4(SERPINE1):c.356dup (p.Ile120fs) rs1554362148
NM_000602.4(SERPINE1):c.43G>A (p.Ala15Thr) rs6092
NM_000602.4(SERPINE1):c.697_698TA[3] (p.Thr234fs) rs1194865614

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.