List of variants reported as likely benign for primary familial polycythemia due to EPO receptor mutation

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: 24

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001430.5(EPAS1):c.1040_1041insG	rs111426869	0.00804
NM_000121.4(EPOR):c.1462C>T (p.Pro488Ser)	rs142094773	0.00541
NM_001430.5(EPAS1):c.218-8_218-7dup	rs1553394876	0.00358
NM_022051.3(EGLN1):c.1236_1237insTG	rs564384828	0.00264
NM_000121.3(EPOR):c.-133T>G	rs147119630	0.00188
NM_001430.5(EPAS1):c.218-14_218-13insG	rs781736017	0.00118
NM_004972.4(JAK2):c.380G>A (p.Gly127Asp)	rs56118985	0.00048
NM_022051.2(EGLN1):c.-1296T>G	rs568496391	0.00030
NM_000121.4(EPOR):c.1428C>T (p.Ala476=)	rs141096553	0.00016
NM_001430.5(EPAS1):c.*1746G>A	rs540911183	0.00007
NM_000121.4(EPOR):c.1456T>C (p.Ser486Pro)	rs370841243	0.00006
NM_000121.4(EPOR):c.1022C>T (p.Thr341Met)	rs754708788	0.00004
NM_000121.4(EPOR):c.1444G>A (p.Asp482Asn)	rs775164142	0.00004
NM_000121.4(EPOR):c.24C>T (p.Leu8=)	rs577368929	0.00004
NM_000121.4(EPOR):c.215T>C (p.Val72Ala)	rs780617943	0.00001
NM_000121.4(EPOR):c.957C>G (p.Pro319=)
NM_001430.5(EPAS1):c.*1247dup	rs546029479
NM_001430.5(EPAS1):c.*814dup	rs200260946
NM_001430.5(EPAS1):c.2045+8dup	rs557111154
NM_022051.2(EGLN1):c.-1634_-1633AG[1]	rs145140638
NM_022051.2(EGLN1):c.-2689_-2686delCACT	rs577920148
NM_022051.3(EGLN1):c.1434_1436del	rs201012894
NM_022051.3(EGLN1):c.2416_2419del	rs574848765
NM_022051.3(EGLN1):c.*758GTTTT[2]	rs576306593

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.