ClinVar Miner

List of variants reported as benign for acquired aplastic anemia by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (27):

Acute myeloid leukemia; Dyskeratosis congenita, autosomal dominant 2; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1; Melanoma, cutaneous malignant, susceptibility to, 9
Aplastic anemia
Aplastic anemia; Atrial septal defect; Pulmonary arterial hypertension; Hypotelorism; Hemangioma; Hepatomegaly; Abnormal pinna morphology; Downslanted palpebral fissures; Wide anterior fontanel; Low-set, posteriorly rotated ears; Dry skin; Relative macrocephaly; Lateral ventricle dilatation; Intracerebral periventricular calcifications; Aplasia of the ovary; Erythroid hypoplasia; Vaginal hydrocele
Aplastic anemia; Familial hemophagocytic lymphohistiocytosis 2; Lymphoma, non-Hodgkin, familial
Congenital amegakaryocytic thrombocytopenia; Primary myelofibrosis; Thrombocythemia 2
Dyskeratosis congenita, autosomal dominant 1; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2
Dyskeratosis congenita, autosomal dominant 2; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Familial myelofibrosis
Interstitial lung disease 2; Aplastic anemia; Dyskeratosis congenita, autosomal dominant 1; Acute myeloid leukemia; Dyskeratosis congenita, autosomal dominant 2; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1; Melanoma, cutaneous malignant, susceptibility to, 9
Microcephaly, normal intelligence and immunodeficiency; Aplastic anemia; Acute lymphoid leukemia
Multiple congenital anomalies-hypotonia-seizures syndrome 3; Paroxysmal nocturnal hemoglobinuria 2
Myelofibrosis with myeloid metaplasia
Paroxysmal nocturnal hemoglobinuria
Paroxysmal nocturnal hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria 1; Multiple congenital anomalies-hypotonia-seizures syndrome 2
Paroxysmal nocturnal hemoglobinuria 1; Multiple congenital anomalies-hypotonia-seizures syndrome 2; Neurodevelopmental disorder with epilepsy and hemochromatosis
Paroxysmal nocturnal hemoglobinuria 2
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
Primary myelofibrosis
Primary myelofibrosis; Osteoporosis; Thrombocytopenia
Primary myelofibrosis; Splenomegaly
Primary myelofibrosis; Thrombocythemia 2; Congenital amegakaryocytic thrombocytopenia 1
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2
Shwachman-Diamond syndrome 1; Aplastic anemia
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: 6

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HGVS	dbSNP	gnomAD frequency
NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg)	rs3184504	0.66794
NM_198253.3(TERT):c.915G>A (p.Ala305=)	rs2736098	0.21206
NM_002485.5(NBN):c.37+11A>G	rs115032431	0.00540
NM_004972.4(JAK2):c.3188G>A (p.Arg1063His)	rs41316003	0.00500
NM_002485.5(NBN):c.381T>C (p.Ala127=)	rs61754795	0.00266
NM_198253.3(TERT):c.2383-15C>T	rs574645600	0.00013

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