ClinVar Miner

List of variants in gene combination CP, HPS3 reported as benign for anemia

Included ClinVar conditions (292):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000096.4(CP):c.*769G>A rs1053669 0.19723
NM_000096.4(CP):c.2991T>C (p.His997=) rs34394958 0.03057
NM_000096.4(CP):c.3182-4A>G rs34272112 0.00805
NM_000096.4(CP):c.*474T>C rs34936395 0.00559
NM_000096.4(CP):c.*828dup rs35907111
NM_032383.5(HPS3):c.2887+19dup rs397710976

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.