ClinVar Miner

List of variants in gene POLH reported as likely benign for DNA repair disease

Included ClinVar conditions (95):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP
NM_006502.2(POLH):c.*1055A>T rs115129476
NM_006502.2(POLH):c.*1110A>T rs112725367
NM_006502.2(POLH):c.*1129A>T rs28877272
NM_006502.2(POLH):c.*1179G>A rs9333561
NM_006502.2(POLH):c.*1364T>A rs9333565
NM_006502.2(POLH):c.*1563dupA rs201071335
NM_006502.2(POLH):c.*2659T>C rs9462906
NM_006502.2(POLH):c.*2975C>A rs112207298
NM_006502.2(POLH):c.*371A>G rs59061501
NM_006502.2(POLH):c.*4414dupG rs55760315
NM_006502.2(POLH):c.*50A>G rs1064260
NM_006502.2(POLH):c.*537C>T rs55704248
NM_006502.2(POLH):c.*5630G>A rs116106873
NM_006502.2(POLH):c.*5713T>C rs75658777
NM_006502.2(POLH):c.*639G>A rs9333557
NM_006502.2(POLH):c.*693C>T rs9333558
NM_006502.2(POLH):c.*952C>T rs1141338
NM_006502.2(POLH):c.1434G>A (p.Thr478=) rs3734690
NM_006502.2(POLH):c.1783A>G (p.Met595Val) rs9333555

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.