ClinVar Miner

List of variants studied for lupus erythematosus by OMIM

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
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_001394477.1(FCGR2B):c.695T>C (p.Ile232Thr) rs1050501 0.19240
NC_000006.12:g.31575254G>A rs1800629 0.14163
NM_015967.8(PTPN22):c.1858= (p.Trp620=) rs2476601 0.06839
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_015474.4(SAMHD1):c.602T>A (p.Ile201Asn) rs138603088 0.00002
NM_004001.4(FCGR2B):c.-386G>C rs3219018
NM_004944.4(DNASE1L3):c.643del (p.Trp215fs) rs1575496354
NM_005223.4(DNASE1):c.13A>T (p.Lys5Ter) rs121912990
NM_016562.4(TLR7):c.1521T>G (p.Phe507Leu) rs2147245859
NM_016562.4(TLR7):c.790T>C (p.Tyr264His) rs2147245558
NM_016562.4(TLR7):c.82A>G (p.Arg28Gly) rs2147245261
NM_033629.6(TREX1):c.375dup (p.Gly126fs) rs1575292873
NM_033629.6(TREX1):c.52G>A (p.Asp18Asn) rs121908117

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