ClinVar Miner

List of variants in gene HCN3, PKLR studied for hematologic disorder

Included ClinVar conditions (812):
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_000298.6(PKLR):c.*1040G>A rs8847 0.35054
NM_000298.6(PKLR):c.*893T>G rs41264939 0.00637
NM_000298.6(PKLR):c.*1067T>C rs559809916 0.00122
NM_000298.6(PKLR):c.*1041C>T rs528740550 0.00030
NM_000298.6(PKLR):c.*866T>C rs886045347 0.00019
NM_000298.6(PKLR):c.*735A>G rs180944719 0.00014
NM_000298.6(PKLR):c.*1105G>A rs937795186 0.00003
NM_000298.6(PKLR):c.*1277G>A rs917244300 0.00001
NM_000298.6(PKLR):c.*779C>A rs886045348 0.00001
NM_000298.6(PKLR):c.*755T>C rs1674455124

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.