ClinVar Miner

List of variants studied for acute myeloid leukemia by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (24):

Acute Myeloid Leukemia with Multilineage Dysplasia
Acute leukemia of ambiguous lineage
Acute megakaryoblastic leukemia
Acute megakaryoblastic leukemia; Mediastinal germ cell tumor
Acute monocytic leukemia; Acute monoblastic leukemia
Acute myeloid leukemia
Acute myeloid leukemia with maturation
Acute myeloid leukemia, M6 type
Acute myeloid leukemia; Dyskeratosis congenita, autosomal dominant, 2; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1; Cutaneous malignant melanoma 9
Acute myeloid leukemia; Lymphedema, primary, with myelodysplasia; Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency; Myelodysplastic syndrome
Acute myeloid leukemia; Myelodysplasia
Acute myeloid leukemia; Tatton-Brown-rahman syndrome
Acute promyelocytic leukemia
Familial cancer of breast; Hereditary diffuse gastric cancer; Lung cancer; Noonan syndrome 3; Epidermal nevus syndrome; Cerebral arteriovenous malformation; Bladder cancer, somatic; Carcinoma of pancreas; RAS-associated autoimmune leukoproliferative disorder; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2
Familial erythrocytosis, 1; Polycythemia vera; Budd-Chiari syndrome; Myelofibrosis; Acute myeloid leukemia; Thrombocythemia 3
Familial platelet disorder with associated myeloid malignancy; Acute myeloid leukemia
Gastrointestinal stroma tumor; Mastocytosis; Partial albinism; Malignant tumor of testis; Acute myeloid leukemia
Idiopathic fibrosing alveolitis, chronic form; Aplastic anemia; Dyskeratosis congenita autosomal dominant; Acute myeloid leukemia; Dyskeratosis congenita, autosomal dominant, 2; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1; Cutaneous malignant melanoma 9
Noonan syndrome 3; Epidermal nevus syndrome; RAS-associated autoimmune leukoproliferative disorder; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2
Noonan syndrome 3; RAS-associated autoimmune leukoproliferative disorder; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2
Pectus excavatum; Acute myeloid leukemia; Short stature; Cognitive impairment; Webbed neck; Pancytopenia; Abnormality of the tongue
Polycythemia vera; Acute myeloid leukemia; Thrombocythemia 3
Sotos syndrome 1; Acute myeloid leukemia
Thrombocythemia 1; Acute myeloid leukemia

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Total variants: 4

Download table as spreadsheet

HGVS	dbSNP
NM_001193376.2(TERT):c.1317_1319GGA[2] (p.Glu441del)	rs377639087
NM_004364.4(CEBPA):c.-39C>A	rs41434054
NM_033360.4(KRAS):c.112-5C>T	rs376520586
NM_198253.2(TERT):c.2221G>A (p.Val741Met)	rs150819225

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