ClinVar Miner

List of variants studied for hypersensitivity reaction disease by Revvity Omics, Revvity

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: 18

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000043.6(FAS):c.580G>A (p.Glu194Lys)	rs56006128	0.00138
NM_006254.4(PRKCD):c.1447C>T (p.Arg483Trp)	rs35891605	0.00063
NM_000639.3(FASLG):c.360G>C (p.Gln120His)	rs372615226	0.00026
NM_032977.4(CASP10):c.259C>T (p.Arg87Trp)	rs551818122	0.00013
NM_032977.4(CASP10):c.684+1G>A	rs372539994	0.00008
NM_032977.4(CASP10):c.1093del (p.Tyr365fs)	rs781003519	0.00004
NM_000043.6(FAS):c.245G>A (p.Cys82Tyr)
NM_000043.6(FAS):c.466G>A (p.Glu156Lys)
NM_000639.3(FASLG):c.576_587del (p.Ser193_Tyr196del)
NM_001372051.1(CASP8):c.635C>G (p.Pro212Arg)
NM_005214.5(CTLA4):c.654T>A (p.Tyr218Ter)
NM_006254.4(PRKCD):c.818G>A (p.Arg273Gln)
NM_014009.4(FOXP3):c.543-2A>G
NM_014009.4(FOXP3):c.575C>T (p.Pro192Leu)
NM_032977.4(CASP10):c.1207G>C (p.Gly403Arg)	rs916343393
NM_032977.4(CASP10):c.1280A>G (p.Gln427Arg)
NM_032977.4(CASP10):c.1465C>T (p.Arg489Ter)	rs746530401
NM_032977.4(CASP10):c.1546C>G (p.Pro516Ala)

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