ClinVar Miner

List of variants studied for bone inflammation disease by OMIM

Included ClinVar conditions (30):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
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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_001098629.3(IRF5):c.-12+198= rs1432329681 0.47453
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_017436.7(A4GALT):c.42C>T (p.Gly14=) rs778598915 0.00002
NM_000088.4(COL1A1):c.3040C>T (p.Arg1014Cys) rs72653170 0.00001
NM_001375808.2(LPIN2):c.2201C>T (p.Ser734Leu) rs80338807 0.00001
NM_173842.3(IL1RN):c.229G>T (p.Glu77Ter) rs121913161 0.00001
NC_000002.12:g.112960554_113135775del
NM_000877.4(IL1R1):c.391A>G (p.Lys131Glu)
NM_001375808.2(LPIN2):c.540_541del (p.Thr180_Cys181insTer) rs80338806
NM_001463.4(FRZB):c.970C>G (p.Arg324Gly) rs7775
NM_054027.6(ANKH):c.-11C>T rs2126640512
NM_054027.6(ANKH):c.1165G>A (p.Gly389Arg) rs28939080
NM_054027.6(ANKH):c.13C>A (p.Pro5Thr) rs121908410
NM_054027.6(ANKH):c.143T>C (p.Met48Thr) rs121908407
NM_054027.6(ANKH):c.14C>T (p.Pro5Leu) rs121908409
NM_153758.5(IL19):c.-149+4208T>C rs587776843
NM_173842.3(IL1RN):c.156_157del (p.Asn52fs) rs672601268
NM_173842.3(IL1RN):c.160C>T (p.Gln54Ter) rs121913162

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