ClinVar Miner

List of variants in gene combination LOC107303340, VHL reported as 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)
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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000551.4(VHL):c.340+648T>C	rs73024533	0.01009
NM_000551.4(VHL):c.463+8C>T	rs5030834	0.00051
NM_000551.4(VHL):c.340+679T>G	rs866935879	0.00037
NM_000551.4(VHL):c.*70C>T	rs552290225	0.00011
NM_000551.4(VHL):c.340+837A>G	rs190906863	0.00006
NM_000551.4(VHL):c.340+621T>C	rs562162481	0.00005
NM_000551.4(VHL):c.340+724G>C	rs900590059	0.00002
NM_000551.4(VHL):c.340+595C>T	rs1335472800	0.00001
NM_000551.4(VHL):c.463+20dup
NM_000551.4(VHL):c.463+37_463+39del	rs869025658

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