ClinVar Miner

List of variants in gene combination HBA2, LOC106804612 reported as likely pathogenic for polycythemia

Included ClinVar conditions (22):

Acquired polycythemia vera
Acquired polycythemia vera; Acute myeloid leukemia; Thrombocythemia 3
Acquired polycythemia vera; Endometrial serous adenocarcinoma
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
Polycythemia
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: 13

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HGVS	dbSNP	gnomAD frequency
NM_000517.4(HBA2):c.142G>C (p.Asp48His)	rs281864834	0.00003
NM_000517.6(HBA2):c.377T>G (p.Leu126Arg)	rs41397847	0.00001
NM_000517.6(HBA2):c.391G>C (p.Ala131Pro)	rs41529844	0.00001
NM_000517.6(HBA2):c.149_150del (p.Ser50fs)
NM_000517.6(HBA2):c.301-1G>A	rs587776827
NM_000517.6(HBA2):c.313T>C (p.Cys105Arg)	rs1263969213
NM_000517.6(HBA2):c.314G>A (p.Cys105Tyr)	rs41417548
NM_000517.6(HBA2):c.379G>A (p.Asp127Asn)	rs33933481
NM_000517.6(HBA2):c.43T>C (p.Trp15Arg)
NM_000517.6(HBA2):c.47del (p.Gly16fs)
NM_000517.6(HBA2):c.48dup (p.Lys17Ter)
NM_000517.6(HBA2):c.82_83insT (p.Glu28fs)
NM_000517.6(HBA2):c.98T>C (p.Met33Thr)

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