ClinVar Miner

List of variants in gene TERC studied for acquired aplastic anemia

Included ClinVar conditions (22):

Anemia; Pure red-cell aplasia
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
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
Shwachman-Diamond syndrome 1; Aplastic anemia
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
		ClinVar version:

Total variants: 2

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NR_001566.1(TERC):n.450G>A	rs199422287	0.00001
NR_001566.1(TERC):n.391_392del	rs199422283

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