ClinVar Miner

List of variants in gene combination CP, HPS3 reported as likely benign for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_032383.5(HPS3):c.*172G>A rs34511277 0.11672
NM_032383.5(HPS3):c.*128A>G rs73019023 0.11195
NM_000096.4(CP):c.2991T>C (p.His997=) rs34394958 0.03057
NM_000096.4(CP):c.*1157C>T rs11537809 0.02347
NM_000096.4(CP):c.*137C>T rs34228141 0.02012
NM_000096.4(CP):c.*768T>C rs35805816 0.01348
NM_000096.4(CP):c.*879A>C rs144029944 0.00863
NM_000096.4(CP):c.3182-4A>G rs34272112 0.00805
NM_032383.5(HPS3):c.*170C>T rs182666670 0.00795
NM_000096.4(CP):c.*259C>T rs192321084 0.00414
NM_032383.5(HPS3):c.2364A>G (p.Ala788=) rs149563235 0.00034
NM_032383.5(HPS3):c.2469A>G (p.Thr823=) rs370137287 0.00010
NM_000096.4(CP):c.3183C>T (p.Asp1061=) rs184845153 0.00006
NM_032383.5(HPS3):c.2634G>A (p.Pro878=) rs147593958 0.00003
NM_032383.5(HPS3):c.2692C>T (p.Arg898Cys) rs543058717 0.00002
NM_032383.5(HPS3):c.2967T>C (p.Phe989=) rs1170514296 0.00001
NM_000096.4(CP):c.3186C>A (p.Thr1062=)
NM_032383.5(HPS3):c.2479C>T (p.Leu827=) rs773017257

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.