List of variants reported as likely benign for Erythrocytosis, familial, 3 by Illumina Laboratory Services, Illumina

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_022051.3(EGLN1):c.*494G>A	rs144067360	0.01167
NM_022051.3(EGLN1):c.*1787T>G	rs143135847	0.01166
NM_022051.3(EGLN1):c.*387G>A	rs192117490	0.00302
NM_022051.3(EGLN1):c.*2043C>T	rs193073371	0.00143
NM_022051.3(EGLN1):c.*21C>G	rs199612416	0.00121
NM_022051.3(EGLN1):c.12C>G (p.Asp4Glu)	rs186996510	0.00079
NM_022051.3(EGLN1):c.924G>A (p.Thr308=)	rs201523464	0.00019

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.