ClinVar Miner

List of variants studied for hypersensitivity reaction disease by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (32):

Astigmatism; Leukodystrophy; Motor delay; Seizure; Short stature; Hypermetropia; Delayed speech and language development; Open mouth; Microcephaly; Strabismus; Amblyopia; EEG with generalized slow activity; Allergy
Atopic eczema; Hypertrichosis; Hypoglycemia; Hyperinsulinemia
Atopic eczema; Ichthyosis
Atopic eczema; Ichthyosis vulgaris
Autoimmune lymphoproliferative syndrome
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
Autoimmune lymphoproliferative syndrome type 1
Autoimmune lymphoproliferative syndrome type 1; Lung cancer
Autoimmune lymphoproliferative syndrome type 2A
Autoimmune lymphoproliferative syndrome type 2A; Gastric cancer; Lymphoma, non-Hodgkin, familial
Autoimmune lymphoproliferative syndrome type 2A; Neoplasm of stomach
Autoimmune lymphoproliferative syndrome type 2B
Autoimmune lymphoproliferative syndrome type 4
Autoimmune lymphoproliferative syndrome, type 1a
Autoimmune lymphoproliferative syndrome, type 1b
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
Castleman-Kojima disease
Celiac disease, susceptibility to, 3; Type 1 diabetes mellitus 12; Hashimoto thyroiditis; Systemic lupus erythematosus; Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
Dermatitis, atopic
Diabetes mellitus type 1; Insulin-dependent diabetes mellitus secretory diarrhea syndrome
Familial cancer of breast; Autoimmune lymphoproliferative syndrome type 2B; Hepatocellular carcinoma; Lung cancer
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
Global developmental delay; Posteriorly rotated ears; Anemia; Tapered finger; Hemangioma; Clinodactyly of the 5th finger; Delayed speech and language development; Abnormality of the dentition; Macrocephaly; Bruising susceptibility; Gastroesophageal reflux; Allergy; Heart murmur; Hypotonia; Asthma
IgE responsiveness, atopic
IgE responsiveness, atopic; Cryptosporidiosis-chronic cholangitis-liver disease syndrome
IgE responsiveness, atopic; Susceptibility to HIV infection
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
Large congenital melanocytic nevus; Neurocutaneous melanocytosis; Linear nevus sebaceous syndrome; Epidermal nevus; Thyroid cancer, nonmedullary, 2; Noonan syndrome 6; Autoimmune lymphoproliferative syndrome type 4; Colorectal cancer
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

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

Total variants: 23

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_181078.3(IL21R):c.-17+563G>A	rs117535117	0.00901
NM_181078.3(IL21R):c.824G>A (p.Arg275Gln)	rs52822694	0.00673
NM_000418.4(IL4R):c.1160C>T (p.Ser387Leu)	rs6413500	0.00374
NM_181078.3(IL21R):c.1033G>A (p.Gly345Ser)	rs56148525	0.00271
NM_000639.3(FASLG):c.451+7A>G	rs201525996	0.00210
NM_000418.4(IL4R):c.1774G>T (p.Val592Leu)	rs138392496	0.00156
NM_014009.4(FOXP3):c.176C>G (p.Ser59Cys)	rs199917616	0.00151
NM_000043.6(FAS):c.580G>A (p.Glu194Lys)	rs56006128	0.00138
NM_000639.3(FASLG):c.280T>G (p.Leu94Val)	rs56302117	0.00033
NM_000043.6(FAS):c.578A>G (p.Lys193Arg)	rs150489856	0.00026
NM_032977.4(CASP10):c.259C>T (p.Arg87Trp)	rs551818122	0.00013
NM_006254.4(PRKCD):c.1260+7G>A	rs374605708	0.00011
NM_014009.4(FOXP3):c.551C>T (p.Ser184Leu)	rs140222626	0.00011
NM_181078.3(IL21R):c.995C>T (p.Thr332Met)	rs761814669	0.00007
NM_001372051.1(CASP8):c.159G>A (p.Met53Ile)	rs200261147	0.00006
NM_000043.6(FAS):c.413C>T (p.Thr138Ile)	rs760912307	0.00002
NM_006254.4(PRKCD):c.889-9C>T	rs782612523	0.00002
NM_033360.4(KRAS):c.112-5C>T	rs376520586	0.00001
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg)	rs727503110
NM_005214.5(CTLA4):c.410C>T (p.Pro137Leu)	rs1553657429
NM_005214.5(CTLA4):c.457G>A (p.Asp153Asn)	rs1581573970
NM_014009.4(FOXP3):c.102C>A (p.Asp34Glu)	rs2066088699
NM_032977.4(CASP10):c.1271C>T (p.Thr424Ile)	rs1559309649

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