ClinVar Miner

List of variants reported as risk factor for autoimmune disease

Included ClinVar conditions (82):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_016382.4(CD244):c.834+526A>G rs3766379 0.57260
NM_000246.3(CIITA):c.-286G= rs3087456 0.47237
NM_005223.4(DNASE1):c.731G>A (p.Arg244Gln) rs1053874 0.44356
NM_005214.5(CTLA4):c.49A>G (p.Thr17Ala) rs231775 0.39951
NM_001144962.2(NFKBIL1):c.-13+590T>A rs2071592 0.37279
NM_001394477.1(FCGR2B):c.695T>C (p.Ile232Thr) rs1050501 0.19240
NM_000594.3(TNF):c.-488G>A rs1800629 0.14163
NM_003059.3(SLC22A4):c.393+6607C>T rs3792876 0.06888
NM_015967.8(PTPN22):c.1858= (p.Trp620=) rs2476601 0.06839
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_001014286.3(SUPT20H):c.73A>T (p.Lys25Ter) rs1566328963
NM_004001.4(FCGR2B):c.-386G>C rs3219018
NM_005223.4(DNASE1):c.13A>T (p.Lys5Ter) rs121912990

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