ClinVar Miner

List of variants reported as risk factor for bone inflammation disease

Included ClinVar conditions (30):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NC_000007.14:g.22727026C>G rs1800795 0.70949
NM_016382.4(CD244):c.834+526A>G rs3766379 0.57260
NM_000557.5(GDF5):c.-275= rs143383 0.53070
NM_000246.3(CIITA):c.-286G= rs3087456 0.47237
NM_001144962.2(NFKBIL1):c.-13+590T>A rs2071592 0.37279
NR_038911.1(MIF-AS1):n.1697C>G rs755622 0.25833
NM_001463.4(FRZB):c.598C>T (p.Arg200Trp) rs288326 0.08361
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
NM_001463.4(FRZB):c.970C>G (p.Arg324Gly) rs7775

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