ClinVar Miner

List of variants reported as benign for aceruloplasminemia by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000096.4(CP):c.2662-12T>C rs16861582 0.33387
NM_000096.4(CP):c.2286-15del rs143522213 0.30978
NM_000096.4(CP):c.*769G>A rs1053669 0.19723
NM_000096.4(CP):c.782-14C>T rs34067682 0.05131
NM_000096.4(CP):c.1950A>C (p.Gly650=) rs1053709 0.04222
NM_000096.4(CP):c.1652C>T (p.Thr551Ile) rs61733458 0.02154
NM_000096.4(CP):c.2286-12T>G rs183671127 0.01016
NM_000096.4(CP):c.669G>C (p.Val223=) rs35438054 0.00599
NM_000096.4(CP):c.*474T>C rs34936395 0.00559
NM_000096.4(CP):c.1275T>C (p.Tyr425=) rs34237139 0.00484
NM_000096.4(CP):c.1349-13T>C rs17847017 0.00469
NM_000096.4(CP):c.1348+9T>C rs35272481 0.00465
NM_000096.4(CP):c.2525A>G (p.Glu842Gly) rs149858116 0.00437
NM_000096.4(CP):c.2878+12T>G rs35848147 0.00288
NM_000096.4(CP):c.347C>A (p.Pro116His) rs73866999 0.00150
NM_000096.4(CP):c.*828dup rs35907111
NM_000096.4(CP):c.2286-15G>T rs34861155
NM_000096.4(CP):c.2554+14C>G rs200965170
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.