ClinVar Miner

List of variants in gene HCN3, PKLR studied for anemia

Included ClinVar conditions (280):
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_020897.3(HCN3):c.*1069C>T rs8847 0.35054
NM_020897.3(HCN3):c.*1216A>C rs41264939 0.00637
NM_020897.3(HCN3):c.*1042A>G rs559809916 0.00122
NM_020897.3(HCN3):c.*1243A>G rs886045347 0.00019
NM_020897.3(HCN3):c.*1374T>C rs180944719 0.00014
NM_020897.3(HCN3):c.*1068G>A rs528740550 0.00013
NM_020897.3(HCN3):c.*1004C>T rs937795186 0.00003
NM_020897.3(HCN3):c.*1330G>T rs886045348 0.00001
NM_020897.3(HCN3):c.*832C>T rs917244300 0.00001
NM_020897.3(HCN3):c.*1354A>G 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.