ClinVar Miner

List of variants in gene HRG studied for blood coagulation disease

Included ClinVar conditions (153):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000412.5(HRG):c.1478A>T (p.Asn493Ile) rs1042464 0.56222
NM_000412.5(HRG):c.610C>T (p.Pro204Ser) rs9898 0.42606
NM_000412.5(HRG):c.1342C>T (p.Arg448Cys) rs1042445 0.27106
NM_000412.5(HRG):c.125G>A (p.Arg42Gln) rs114895145 0.00329
NM_000412.5(HRG):c.72C>A (p.Cys24Ter) rs148593044 0.00019
NM_000412.5(HRG):c.736C>A (p.Pro246Thr) rs780950869 0.00001
NM_000412.5(HRG):c.946C>T (p.Pro316Ser) rs903824710 0.00001
C223R
NM_000412.5(HRG):c.1194_1196del (p.His400del)
NM_000412.5(HRG):c.745C>T (p.His249Tyr) rs2108584875

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.