ClinVar Miner

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

Included ClinVar conditions (4):

Familial erythrocytosis
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

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe)	rs77375493	0.00036
NM_005475.3(SH2B3):c.1183G>A (p.Glu395Lys)	rs148636776	0.00025
NM_005475.3(SH2B3):c.1A>G (p.Met1Val)	rs376261237	0.00001

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