ClinVar Miner

List of variants reported as risk factor for arthropathy

Included ClinVar conditions (18):

Achondrogenesis type II; Kniest dysplasia; Stickler syndrome type 1; Platyspondylic dysplasia, Torrance type; Spondyloepiphyseal dysplasia congenita; Spondyloepiphyseal dysplasia with metatarsal shortening; 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
Colitis; Immunodeficiency; Skin rash; Arthritis
Colitis; Immunodeficiency; Skin rash; Arthritis; Decreased circulating antibody concentration
Hypothyroidism; Anxiety; Polyarticular arthritis
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
MHC class II deficiency; Rheumatoid arthritis
Osteoarthritis
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; Abnormal pulmonary interstitial morphology
Susceptibility to HIV infection; Rheumatoid arthritis; Graft-versus-host disease, susceptibility to
Synovial plica syndrome
Temporomandibular joint disorder

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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: 6

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HGVS	dbSNP	gnomAD frequency
NM_016382.4(CD244):c.834+526A>G	rs3766379	0.57260
NC_000016.10:g.10877045=	rs3087456	0.47237
NM_001144962.2(NFKBIL1):c.-13+590T>A	rs2071592	0.37279
NM_003059.3(SLC22A4):c.393+6607C>T	rs3792876	0.06888
NM_015967.8(PTPN22):c.1858= (p.Trp620=)	rs2476601	0.06839
NM_001014286.3(SUPT20H):c.73A>T (p.Lys25Ter)	rs1566328963

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