ClinVar Miner

List of variants reported as uncertain significance for arthritic joint disease by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000572.3(IL10):c.43G>A (p.Gly15Arg) rs145922845 0.00186
NM_000246.4(CIITA):c.413T>C (p.Val138Ala) rs142469968 0.00072
NM_000246.4(CIITA):c.931A>G (p.Met311Val) rs140139362 0.00050
NM_000246.4(CIITA):c.286G>A (p.Ala96Thr) rs149253747 0.00049
NM_000246.4(CIITA):c.2651G>A (p.Arg884His) rs374443915 0.00048
NM_000246.4(CIITA):c.3217T>A (p.Ser1073Thr) rs761139192 0.00003
NM_000246.4(CIITA):c.2817-8C>G rs775728920 0.00002
NM_000246.4(CIITA):c.2375A>T (p.Tyr792Phe) rs1234424650 0.00001
NM_000246.4(CIITA):c.929A>T (p.Asn310Ile) rs1567409783
NM_000246.4(CIITA):c.965C>T (p.Pro322Leu) rs74806537

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