ClinVar Miner

List of variants studied for bone inflammation disease by Baylor Genetics

Included ClinVar conditions (30):

Achondrogenesis type II; Kniest dysplasia; Stickler syndrome type 1; Platyspondylic dysplasia, Torrance type; Spondyloepiphyseal dysplasia congenita; Czech dysplasia, metatarsal type; Osteoarthritis; Spondyloepimetaphyseal dysplasia, Strudwick type
Arthritis, sacroiliac; Scoliosis; Arthritis; Inflammation of the large intestine; Kyphosis; Low back pain; Sacroiliac joint synovitis; Enthesitis; Synovitis
Chondrocalcinosis
Chondrocalcinosis 2
Chondrocalcinosis 2; Craniometaphyseal dysplasia, autosomal dominant
Chronic multifocal osteomyelitis
Colitis; Immunodeficiency; Skin rash; Arthritis
Colitis; Immunodeficiency; Skin rash; Arthritis; Decreased circulating antibody level
Imperforate anus; Atrial septal defect; Psoriasiform dermatitis; 2-3 toe syndactyly; Abnormal facial shape; Delayed speech and language development; Single umbilical artery; Arthritis; Intellectual disability, moderate; Delayed skeletal maturation; Vertebral fusion; Coronary artery atherosclerosis; Peripheral pulmonary artery stenosis; Absent/hypoplastic coccyx; Ventricular septal defect
Infantile cortical hyperostosis
Infantile cortical hyperostosis; Ehlers-Danlos syndrome, arthrochalasis type; Osteogenesis imperfecta
Infantile cortical hyperostosis; Ehlers-Danlos syndrome, cardiac valvular type; Ehlers-Danlos syndrome, arthrochalasis type; Osteogenesis imperfecta
Infantile cortical hyperostosis; Ehlers-Danlos syndrome, classic type; Ehlers-Danlos syndrome, arthrochalasis type; Osteogenesis imperfecta type I
Infantile cortical hyperostosis; Osteogenesis imperfecta; Ehlers-danlos syndrome, arthrochalasia type, 2
MHC class II deficiency; Rheumatoid arthritis
Majeed syndrome
Microvascular complications of diabetes, susceptibility to, 4; Sterile multifocal osteomyelitis with periostitis and pustulosis; Gastric cancer
Osteoarthritis
Osteoarthritis, hip
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, recessive perinatal lethal; Osteogenesis imperfecta type III; Infantile cortical hyperostosis; Ehlers-Danlos syndrome, arthrochalasis type; Osteogenesis imperfecta type I; Osteoporosis; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, recessive perinatal lethal; Osteogenesis imperfecta type III; Infantile cortical hyperostosis; Osteogenesis imperfecta type I; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
Osteogenesis imperfecta with normal sclerae, dominant form; Postmenopausal osteoporosis; Osteogenesis imperfecta, recessive perinatal lethal; Osteogenesis imperfecta type III; Infantile cortical hyperostosis; Ehlers-Danlos syndrome, arthrochalasis type; Osteogenesis imperfecta type I
Osteogenesis imperfecta with normal sclerae, dominant form; Postmenopausal osteoporosis; Osteogenesis imperfecta, recessive perinatal lethal; Osteogenesis imperfecta type III; Infantile cortical hyperostosis; Ehlers-Danlos syndrome, arthrochalasis type; Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1
Pancytopenia; Arthritis; Abnormal autonomic nervous system physiology; Gastrointestinal dysmotility; Polyarticular arthritis; Sinus tachycardia; Chronic pain; Inappropriate sinus tachycardia
Rheumatoid arthritis
Rheumatoid arthritis, progression of
Rheumatoid arthritis, systemic juvenile, susceptibility to
Rheumatoid arthritis; Abnormal pulmonary interstitial morphology
Sterile multifocal osteomyelitis with periostitis and pustulosis
Susceptibility to HIV infection; Rheumatoid arthritis; Graft-versus-host disease, susceptibility to

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

Total variants: 5

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000246.4(CIITA):c.3344G>A (p.Ser1115Asn)	rs138790505	0.00029
NM_173842.3(IL1RN):c.418G>A (p.Ala140Thr)	rs565499594	0.00005
NM_000088.4(COL1A1):c.3122C>T (p.Pro1041Leu)	rs1906769403
NM_000088.4(COL1A1):c.3207+3A>G	rs1906755287
NM_000088.4(COL1A1):c.3398G>A (p.Gly1133Glu)	rs1906659084

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.