ClinVar Miner

List of variants reported as benign for hypersensitivity reaction disease by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 4

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_014009.4(FOXP3):c.543C>T (p.Ser181=)	rs2232367	0.03006
NM_014009.4(FOXP3):c.648-20G>A	rs2232368	0.01436
NM_006254.4(PRKCD):c.214G>C (p.Val72Leu)	rs151061939	0.00535
NM_006254.4(PRKCD):c.1260+6C>T	rs180706867	0.00270

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