List of variants reported as uncertain significance for Familial erythrocytosis

Minimum submission review status:		Collection method:
Minimum conflict level:
Show significances as they were submitted (without aggregation into standard terms)
		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.