ClinVar Miner

List of variants studied for coagulation protein disease by Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
NM_000132.3(F8):c.3169G>A (p.Glu1057Lys) rs28933673
NM_000132.3(F8):c.6724G>A (p.Val2242Met) rs782654096
NM_000133.3(F9):c.769G>A (p.Val257Ile) rs200608775
NM_000301.3(PLG):c.1858G>A (p.Ala620Thr) rs121918027
NM_000505.3(F12):c.1027G>C (p.Ala343Pro) rs183643295
NM_000892.5(KLKB1):c.1259G>A (p.Gly420Glu) rs186254196
NM_001102416.3(KNG1):c.1866_1869del (p.Ser623fs) rs559129841

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.