ClinVar Miner

List of variants in gene PKLR reported as benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000298.6(PKLR):c.283+113T>C rs3020781 0.38801
NM_000298.6(PKLR):c.*267C>T rs932972 0.35051
NM_000298.6(PKLR):c.1705C>A (p.Arg569=) rs1052176 0.35034
NC_000001.11:g.155301643del rs141119689 0.04516
NM_000298.6(PKLR):c.1437-49G>A rs3762272 0.04480
NM_000298.6(PKLR):c.283+109C>T rs8177964 0.03828
NM_000298.6(PKLR):c.181C>T (p.Leu61=) rs8177962 0.00289
NM_000298.6(PKLR):c.1686C>T (p.Ser562=) rs140859641 0.00040
NM_000298.6(PKLR):c.*13T>C rs1052177
NM_000298.6(PKLR):c.375+10G>T rs8177971
NM_000298.6(PKLR):c.507+51T>C rs2071053
NM_000298.6(PKLR):c.972T>C (p.Asp324=) rs8177974

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.