ClinVar Miner

List of variants studied for myeloproliferative neoplasm by Bone Marrow Failure laboratory, Queen Mary University London

Included ClinVar conditions (68):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_016222.4(DDX41):c.142C>T (p.Gln48Ter) rs377745714 0.00005
NM_001754.5(RUNX1):c.588del (p.Val197fs) rs2057541271
NM_016222.4(DDX41):c.1586_1587del (p.Thr529fs) rs866179648
NM_016222.4(DDX41):c.719delinsCG (p.Ile240fs) rs1761157695
NM_017612.5(ZCCHC8):c.551G>A (p.Gly184Glu)
Single allele

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.