List of variants studied for primary familial polycythemia due to EPO receptor mutation by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000121.4(EPOR):c.1460A>G (p.Asn487Ser)	rs62638745	0.00627
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe)	rs77375493	0.00036
NM_000121.4(EPOR):c.1278C>G (p.Tyr426Ter)	rs121917831
NM_000121.4(EPOR):c.1281dup (p.Ile428fs)	rs1555716047
NM_000121.4(EPOR):c.1283_1289dup (p.Ser432fs)	rs2144694000
NM_000121.4(EPOR):c.1288dup (p.Asp430fs)	rs1555716045
NM_000121.4(EPOR):c.1299_1305del (p.Gln434fs)	rs1555716041
NM_000121.4(EPOR):c.1317G>A (p.Trp439Ter)	rs121918116
NM_005475.3(SH2B3):c.622G>T (p.Glu208Ter)	rs202080221

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.