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 (35):

Acquired polycythemia vera; Acute myeloid leukemia; Thrombocythemia 3
Acute leukemia of ambiguous lineage
Acute lymphoid leukemia; Acute myeloid leukemia; Encephalopathy, acute, infection-induced, susceptibility to, 9
Acute megakaryoblastic leukemia
Acute megakaryoblastic leukemia in down syndrome
Acute megakaryoblastic leukemia without down syndrome
Acute megakaryoblastic leukemia; Mediastinal germ cell tumor
Acute monocytic leukemia; Acute monoblastic leukemia
Acute myeloblastic leukemia with maturation
Acute myeloid leukemia
Acute myeloid leukemia with multilineage dysplasia
Acute myeloid leukemia; Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections; Myelodysplastic syndrome
Acute myeloid leukemia; Dyskeratosis congenita, autosomal dominant 2; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1; Melanoma, cutaneous malignant, susceptibility to, 9
Acute myeloid leukemia; Myelodysplasia
Acute myeloid leukemia; Sotos syndrome
Acute myeloid leukemia; Tatton-Brown-Rahman overgrowth syndrome
Acute myeloid leukemia; Tatton-Brown-Rahman overgrowth syndrome; Heyn-Sproul-Jackson syndrome
Acute myeloid leukemia; Thrombocytopenia 5
Acute promyelocytic leukemia
Erythroleukemia, familial, susceptibility to
Erythroleukemia, familial, susceptibility to; Lethal congenital contracture syndrome 2; Visceral neuropathy, familial, 1, autosomal recessive
Familial cancer of breast; Hereditary diffuse gastric adenocarcinoma; Lung carcinoma; Noonan syndrome 3; Linear nevus sebaceous syndrome; Cerebral arteriovenous malformation; Malignant tumor of urinary bladder; Carcinoma of pancreas; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2
Familial cancer of breast; Noonan syndrome 3; Linear nevus sebaceous syndrome; Toriello-Lacassie-Droste syndrome; Cerebral arteriovenous malformation; Malignant tumor of urinary bladder; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2; Familial pancreatic carcinoma; Gastric cancer; Lung cancer
Familial cancer of breast; Noonan syndrome 3; Linear nevus sebaceous syndrome; Toriello-Lacassie-Droste syndrome; Cerebral arteriovenous malformation; Malignant tumor of urinary bladder; Carcinoma of pancreas; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2; Gastric cancer; Lung cancer
Gastrointestinal stromal tumor; Mastocytosis; Piebaldism; Malignant tumor of testis; Acute myeloid leukemia
Gastrointestinal stromal tumor; Piebaldism; Acute myeloid leukemia; Cutaneous mastocytosis; Germ cell tumor of testis
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1; Acute myeloid leukemia
Inherited acute myeloid leukemia
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
Leukemia, acute myeloid, reduced survival in, somatic
Mixed phenotype acute leukemia with t(v;11q23.3)
Noonan syndrome 3; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2
Noonan syndrome 3; Linear nevus sebaceous syndrome; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2
Primary familial polycythemia due to EPO receptor mutation; Acquired polycythemia vera; Budd-Chiari syndrome; Primary myelofibrosis; Acute myeloid leukemia; Thrombocythemia 3
Thrombocythemia 1; Acute myeloid leukemia

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

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_198253.3(TERT):c.1234C>T (p.His412Tyr)	rs34094720	0.00316
NM_004364.5(CEBPA):c.-39C>A	rs41434054	0.00082
NM_001754.5(RUNX1):c.952T>G (p.Ser318Ala)	rs545554349	0.00013
NM_032638.5(GATA2):c.1081C>T (p.Arg361Cys)	rs1426175410	0.00001
NM_032638.5(GATA2):c.208G>T (p.Val70Phe)	rs570531959	0.00001
NM_033360.4(KRAS):c.112-5C>T	rs376520586	0.00001
NM_000222.3(KIT):c.2564A>G (p.Tyr855Cys)	rs1722933723
NM_001754.5(RUNX1):c.386dup (p.Val130fs)	rs2517440416
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg)	rs727503110
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.