ClinVar Miner

List of variants studied for Rheumatoid arthritis

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_016382.4(CD244):c.834+526A>G rs3766379 0.57260
NM_012387.3(PADI4):c.341-15T>C rs2240340 0.54446
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
NM_003059.3(SLC22A4):c.393+6607C>T rs3792876 0.06888
NM_015967.8(PTPN22):c.1858= (p.Trp620=) rs2476601 0.06839
NM_000246.4(CIITA):c.3344G>A (p.Ser1115Asn) rs138790505 0.00029
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_000246.4(CIITA):c.170C>A (p.Ala57Asp) rs1555500356 0.00001
Multiple alleles
NC_000001.11:g.17157671G>T rs1557787212
NM_000246.4(CIITA):c.673G>A (p.Gly225Arg)
NM_001014286.3(SUPT20H):c.73A>T (p.Lys25Ter) rs1566328963
NM_003263.4(TLR1):c.1324T>C (p.Cys442Arg) rs773682011
NM_015967.8(PTPN22):c.1894+2T>C

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