ClinVar Miner

List of variants reported as uncertain significance for Familial erythrocytosis by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
Download table as spreadsheet
HGVS dbSNP
NM_000121.4(EPOR):c.*186_*187dup rs528356712
NM_001430.5(EPAS1):c.*540del rs75932330
NM_001430.5(EPAS1):c.*680dup rs886056094
NM_001430.5(EPAS1):c.*715_*716AG[1] rs886056096
NM_001430.5(EPAS1):c.*733C>G rs886056097
NM_001430.5(EPAS1):c.-472G>A rs886056075
NM_001430.5(EPAS1):c.1035-6del rs757409274
NM_001430.5(EPAS1):c.218-10_218-9insTC rs1553394835
NM_001430.5(EPAS1):c.218-11_218-10insG rs142684263
NM_022051.2(EGLN1):c.*1415_*1419delATTTT rs886046099
NM_022051.2(EGLN1):c.*1428_*1429del rs886046098
NM_022051.2(EGLN1):c.*1802_*1803dup rs541569859
NM_022051.2(EGLN1):c.*1965A>G rs185322052
NM_022051.2(EGLN1):c.*261_*263del rs886046108
NM_022051.2(EGLN1):c.*555_*559del rs886046105
NM_022051.2(EGLN1):c.-1661_-1660del rs886046126
NM_022051.2(EGLN1):c.1217-23dup rs371155853

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.