ClinVar Miner

List of variants reported as pathogenic for arthritic joint disease

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001098629.3(IRF5):c.-12+198= rs1432329681 0.47453
NM_000098.3(CPT2):c.149C>A (p.Pro50His) rs28936375 0.00022
NM_005199.5(CHRNG):c.994C>T (p.Arg332Trp) rs567899708 0.00006
NM_003263.4(TLR1):c.2036T>C (p.Ile679Thr) rs56205407 0.00004
NM_003177.7(SYK):c.1649C>A (p.Ser550Tyr) rs1828636794
NM_003263.4(TLR1):c.1324T>C (p.Cys442Arg) rs773682011
NM_005045.4(RELN):c.7456A>G (p.Ser2486Gly) rs760019076
NM_054027.6(ANKH):c.-11C>T rs2126640512
NM_054027.6(ANKH):c.1126TTC[1] (p.Phe377del) rs121908405
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

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