ClinVar Miner

List of variants studied for familial polycythemia by GenomeConnect - Invitae Patient Insights Network

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
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000551.4(VHL):c.340+578C>T	rs139622356	0.00064
NM_000551.4(VHL):c.439A>G (p.Ile147Val)	rs1057517560	0.00002
NM_000551.4(VHL):c.194C>T (p.Ser65Leu)	rs5030826

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