ClinVar Miner

List of variants in gene EPOR reported as likely benign for familial polycythemia

Included ClinVar conditions (18):

Chuvash polycythemia
Chuvash polycythemia; Pheochromocytoma; Von Hippel-Lindau syndrome; Nonpapillary renal cell carcinoma
Chuvash polycythemia; Von Hippel-Lindau syndrome
Dominant beta-thalassemia; Fetal hemoglobin quantitative trait locus 1; Heinz body anemia; Hb SS disease; alpha Thalassemia; Malaria, susceptibility to; beta Thalassemia; METHEMOGLOBINEMIA, BETA TYPE; Erythrocytosis, familial, 6
Dominant beta-thalassemia; Heinz body anemia; Hb SS disease; Malaria, susceptibility to; METHEMOGLOBINEMIA, BETA TYPE; Erythrocytosis, familial, 6; Hereditary persistence of fetal hemoglobin; Beta-thalassemia HBB/LCRB
Dominant beta-thalassemia; Heinz body anemia; Hb SS disease; alpha Thalassemia; Malaria, susceptibility to; METHEMOGLOBINEMIA, BETA TYPE; Erythrocytosis, familial, 6; Hereditary persistence of fetal hemoglobin; Beta-thalassemia HBB/LCRB
Erythrocytosis, familial, 3
Erythrocytosis, familial, 3; Hemoglobin, high altitude adaptation
Erythrocytosis, familial, 4
Erythrocytosis, familial, 5
Erythrocytosis, familial, 6
Erythrocytosis, familial, 7
Familial erythrocytosis
Heinz body anemia; alpha Thalassemia; Hemoglobin H disease; Erythrocytosis, familial, 7
Heinz body anemia; alpha Thalassemia; Hemoglobin H disease; Methemoglobinemia, alpha type; Erythrocytosis, familial, 7
Primary familial polycythemia due to EPO receptor mutation
Primary familial polycythemia due to EPO receptor mutation; Acquired polycythemia vera; Budd-Chiari syndrome; Primary myelofibrosis; Acute myeloid leukemia; Thrombocythemia 3
Primary familial polycythemia due to EPO receptor mutation; Thrombocythemia 1; Primary myelofibrosis

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

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000121.4(EPOR):c.1462C>T (p.Pro488Ser)	rs142094773	0.00541
NM_000121.3(EPOR):c.-133T>G	rs147119630	0.00188
NM_000121.4(EPOR):c.1428C>T (p.Ala476=)	rs141096553	0.00016
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=)

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.