ClinVar Miner

List of variants studied for acquired aplastic anemia by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_016038.4(SBDS):c.258+2T>C	rs113993993	0.00323
NM_198253.3(TERT):c.1234C>T (p.His412Tyr)	rs34094720	0.00316
NM_001083116.3(PRF1):c.10C>T (p.Arg4Cys)	rs12161733	0.00220
NM_001083116.3(PRF1):c.65C>T (p.Pro22Leu)	rs528937278	0.00004
NM_002485.5(NBN):c.897-2A>T	rs864622090	0.00003
NM_016038.4(SBDS):c.173T>C (p.Val58Ala)	rs747222022	0.00002
NM_016038.4(SBDS):c.258+1G>C	rs113993992	0.00002
NM_002485.5(NBN):c.390A>G (p.Gln130=)	rs146150499	0.00001
NM_016038.4(SBDS):c.523C>T (p.Arg175Trp)	rs774976459	0.00001
NM_002485.5(NBN):c.260T>C (p.Phe87Ser)	rs786203573
NM_002641.4(PIGA):c.248T>C (p.Leu83Pro)	rs1569180063
NM_016038.4(SBDS):c.183_184delinsCT (p.Lys62Ter)	rs113993991
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del)	rs377639087
NM_198253.3(TERT):c.2007G>A (p.Arg669=)	rs1060504788
NM_198253.3(TERT):c.2221G>A (p.Val741Met)	rs150819225
NM_198253.3(TERT):c.902G>A (p.Arg301His)	rs1268051204

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