List of variants reported as benign for Erythrocytosis, familial, 3 by Labcorp Genetics (formerly Invitae), Labcorp

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: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_022051.3(EGLN1):c.380G>C (p.Cys127Ser)	rs12097901	0.15191
NM_022051.3(EGLN1):c.471G>C (p.Gln157His)	rs61750991	0.01830
NM_022051.3(EGLN1):c.1113C>T (p.Arg371=)	rs143991968	0.00206
NM_022051.3(EGLN1):c.1272C>T (p.Asp424=)	rs61734647	0.00188
NM_022051.3(EGLN1):c.12C>G (p.Asp4Glu)	rs186996510	0.00079
NM_022051.3(EGLN1):c.891+17G>C	rs200793131	0.00076
NM_022051.3(EGLN1):c.1259C>T (p.Ser420Leu)	rs147839743	0.00049
NM_022051.3(EGLN1):c.120C>T (p.Phe40=)	rs555121182	0.00029
NM_022051.3(EGLN1):c.354C>T (p.Ala118=)	rs1370030808	0.00016
NM_022051.3(EGLN1):c.843C>T (p.Arg281=)	rs143108243	0.00009
NM_022051.3(EGLN1):c.1011+7A>G	rs199507950	0.00003
NM_022051.3(EGLN1):c.1216+7G>A	rs541795999	0.00001
NM_022051.3(EGLN1):c.477G>A (p.Lys159=)	rs766985056	0.00001
NM_022051.3(EGLN1):c.1011+15T>C
NM_022051.3(EGLN1):c.318C>T (p.Asp106=)

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.