ClinVar Miner

List of variants studied for Systemic lupus erythematosus

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_001715.3(BLK):c.176-104G>A rs6994605 0.90656
NM_001715.3(BLK):c.-1-105C>G rs12386974 0.55690
NM_001715.3(BLK):c.330T>C (p.Ser110=) rs3816668 0.49161
NM_001715.3(BLK):c.*176C>T rs1042689 0.42891
NM_001715.3(BLK):c.-1-53G>A rs2245250 0.41844
NM_001715.3(BLK):c.1313-28C>T rs10097015 0.41687
NM_001715.3(BLK):c.123+88G>T rs2245232 0.41611
NM_001715.3(BLK):c.1030-38C>T rs4841561 0.38972
NM_001715.3(BLK):c.*428G>A rs1042701 0.34826
NM_001715.3(BLK):c.*92G>C rs14053 0.04621
NM_005223.4(DNASE1):c.379G>A (p.Gly127Arg) rs8176919 0.02101
NM_001715.3(BLK):c.258G>A (p.Gln86=) rs56185487 0.02041
NM_001715.3(BLK):c.435C>T (p.Ala145=) rs7836533 0.01672
NM_017935.5(BANK1):c.120G>C (p.Trp40Cys) rs35978636 0.01146
NM_001715.3(BLK):c.177C>G (p.Asp59Glu) rs146083915 0.00891
NM_001715.3(BLK):c.102C>T (p.Asp34=) rs75383960 0.00743
NM_001715.3(BLK):c.472+12G>A rs145058498 0.00652
NM_001715.3(BLK):c.753A>G (p.Gln251=) rs76563369 0.00416
NM_001715.3(BLK):c.187G>A (p.Val63Met) rs138972988 0.00302
NM_001715.3(BLK):c.713G>A (p.Arg238Gln) rs141865425 0.00300
NM_001715.3(BLK):c.116C>T (p.Pro39Leu) rs142352008 0.00222
NM_001715.3(BLK):c.711C>T (p.Pro237=) rs143699141 0.00174
NM_001715.3(BLK):c.1075C>T (p.Arg359Cys) rs146505280 0.00059
NM_001715.3(BLK):c.879C>T (p.His293=) rs142623841 0.00034
NM_001715.3(BLK):c.1057C>T (p.Arg353Cys) rs199696853 0.00006
NM_033629.6(TREX1):c.1A>G (p.Met1Val) rs761165865 0.00005
NM_001715.3(BLK):c.252G>C (p.Lys84Asn) rs778435147 0.00004
NM_001715.3(BLK):c.344G>A (p.Arg115Gln) rs367628135 0.00004
NM_001715.3(BLK):c.672C>T (p.Ala224=) rs201252364 0.00004
NM_001715.3(BLK):c.164A>G (p.His55Arg) rs202053568 0.00003
NM_016562.4(TLR7):c.2716G>A (p.Glu906Lys) rs202022420 0.00003
NM_001715.3(BLK):c.301G>A (p.Val101Ile) rs371256341 0.00001
NM_001715.3(BLK):c.392G>A (p.Arg131Gln) rs144615291 0.00001
NM_001375.3(DNASE2):c.965G>A (p.Gly322Asp) rs1970317070
NM_001715.3(BLK):c.1021T>G (p.Ser341Ala) rs567720261
NM_001715.3(BLK):c.1048T>C (p.Tyr350His) rs758750492
NM_001715.3(BLK):c.391C>T (p.Arg131Trp) rs73663163
NM_001715.3(BLK):c.39G>A (p.Lys13=) rs142129056
NM_001715.3(BLK):c.843T>G (p.Phe281Leu) rs2306234
NM_001715.3(BLK):c.919C>G (p.Pro307Ala) rs1307379746
NM_003745.2(SOCS1):c.460T>C (p.Tyr154His) rs2069578995
NM_003745.2(SOCS1):c.64C>T (p.Arg22Trp) rs2069586831
NM_005223.4(DNASE1):c.385G>A (p.Asp129Asn)
NM_016562.4(TLR7):c.1521T>G (p.Phe507Leu) rs2147245859
NM_033629.6(TREX1):c.856_865dup (p.Ala289fs) rs2040385695

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