ClinVar Miner

List of variants in gene BLK studied for diabetes mellitus

Included ClinVar conditions (88):
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Gene type:
ClinVar version:
Total variants: 107
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HGVS dbSNP gnomAD frequency
NM_001715.3(BLK):c.176-104G>A rs6994605 0.90656
NM_001715.3(BLK):c.843T>C (p.Phe281=) rs2306234 0.81190
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
NC_000008.11:g.11573132C>T rs61199332 0.06287
NM_001715.3(BLK):c.*92G>C rs14053 0.04621
NM_001715.3(BLK):c.258G>A (p.Gln86=) rs56185487 0.02041
NM_001715.3(BLK):c.211G>A (p.Ala71Thr) rs55758736 0.01485
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.335T>C (p.Phe112Ser) rs115068920 0.00517
NM_001715.3(BLK):c.753A>G (p.Gln251=) rs76563369 0.00416
NM_001715.3(BLK):c.*338T>G rs1042695 0.00399
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.674C>T (p.Pro225Leu) rs144592409 0.00230
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.974A>C (p.Lys325Thr) rs77401687 0.00117
NM_001715.3(BLK):c.1338C>G (p.Arg446=) rs377160616 0.00073
NM_001715.3(BLK):c.1075C>T (p.Arg359Cys) rs146505280 0.00059
NM_001715.3(BLK):c.223C>G (p.Arg75Gly) rs149393791 0.00057
NM_001715.3(BLK):c.1302G>A (p.Val434=) rs145686279 0.00054
NM_001715.3(BLK):c.*444C>A rs376203568 0.00034
NM_001715.3(BLK):c.879C>T (p.His293=) rs142623841 0.00034
NM_001715.3(BLK):c.368+13G>A rs199644751 0.00024
NM_001715.3(BLK):c.980A>T (p.Asp327Val) rs138333004 0.00024
NM_001715.3(BLK):c.1349G>A (p.Arg450His) rs202162624 0.00022
NM_001715.3(BLK):c.*209C>G rs544690947 0.00017
NM_001715.3(BLK):c.93A>G (p.Gln31=) rs369109733 0.00016
NM_001715.3(BLK):c.1351G>A (p.Gly451Ser) rs199605698 0.00015
NM_001715.3(BLK):c.772+16C>T rs200129390 0.00011
NM_001715.3(BLK):c.809C>T (p.Thr270Met) rs368427116 0.00011
NM_001715.3(BLK):c.*229G>C rs1045306871 0.00010
NM_001715.3(BLK):c.139C>G (p.Leu47Val) rs202045056 0.00010
NM_001715.3(BLK):c.18C>T (p.Ser6=) rs113656715 0.00010
NM_001715.3(BLK):c.620-11C>T rs764915190 0.00009
NM_001715.3(BLK):c.859G>A (p.Val287Met) rs1042687 0.00007
NM_001715.3(BLK):c.*324G>A rs886062600 0.00006
NM_001715.3(BLK):c.*348C>G rs564964151 0.00006
NM_001715.3(BLK):c.1057C>T (p.Arg353Cys) rs199696853 0.00006
NM_001715.3(BLK):c.675G>A (p.Pro225=) rs761122806 0.00006
NM_001715.3(BLK):c.*376C>T rs886062601 0.00005
NM_001715.3(BLK):c.*371C>A rs774038408 0.00004
NM_001715.3(BLK):c.153G>A (p.Pro51=) rs746710451 0.00004
NM_001715.3(BLK):c.639C>T (p.Cys213=) rs779263158 0.00004
NM_001715.3(BLK):c.672C>T (p.Ala224=) rs201252364 0.00004
NM_001715.3(BLK):c.810G>A (p.Thr270=) rs749767699 0.00004
NM_001715.3(BLK):c.1089G>A (p.Ala363=) rs55836779 0.00003
NM_001715.3(BLK):c.164A>G (p.His55Arg) rs202053568 0.00003
NM_001715.3(BLK):c.67T>C (p.Trp23Arg) rs574731221 0.00003
NM_001715.3(BLK):c.27G>A (p.Pro9=) rs536630306 0.00002
NM_001715.3(BLK):c.41C>T (p.Pro14Leu) rs769734763 0.00002
NM_001715.3(BLK):c.571C>A (p.Pro191Thr) rs769895420 0.00002
NM_001715.3(BLK):c.773-9C>T rs772158649 0.00002
NC_000008.11:g.11564613G>T rs886037621 0.00001
NM_001715.3(BLK):c.*366G>A rs977140703 0.00001
NM_001715.3(BLK):c.*461G>A rs1204192053 0.00001
NM_001715.3(BLK):c.1046C>T (p.Ala349Val) rs759976637 0.00001
NM_001715.3(BLK):c.1142T>C (p.Leu381Ser) rs142803179 0.00001
NM_001715.3(BLK):c.1252G>A (p.Val418Met) rs373565757 0.00001
NM_001715.3(BLK):c.1308C>T (p.Tyr436=) rs886062596 0.00001
NM_001715.3(BLK):c.1371C>T (p.Pro457=) rs1356289485 0.00001
NM_001715.3(BLK):c.154C>A (p.Pro52Thr) rs375173243 0.00001
NM_001715.3(BLK):c.677A>C (p.Gln226Pro) rs551088779 0.00001
NM_001715.3(BLK):c.892C>T (p.Arg298Ter) rs745877998 0.00001
NC_000008.11:g.11564608G>T rs767723868
NM_001715.3(BLK):c.*130G>T rs576749814
NM_001715.3(BLK):c.*161C>G rs886062597
NM_001715.3(BLK):c.*182del rs570307048
NM_001715.3(BLK):c.*214C>T rs1585428580
NM_001715.3(BLK):c.*271G>A rs1343284509
NM_001715.3(BLK):c.*289G>A rs886062599
NM_001715.3(BLK):c.*42A>G rs759997593
NM_001715.3(BLK):c.1013T>C (p.Ile338Thr)
NM_001715.3(BLK):c.1021T>G (p.Ser341Ala) rs567720261
NM_001715.3(BLK):c.1120T>G (p.Cys374Gly) rs886062595
NM_001715.3(BLK):c.1171G>A (p.Ala391Thr)
NM_001715.3(BLK):c.1208C>T (p.Ala403Val) rs139210041
NM_001715.3(BLK):c.129C>A (p.Val43=) rs377568491
NM_001715.3(BLK):c.1370C>T (p.Pro457Leu)
NM_001715.3(BLK):c.1374C>T (p.Asp458=) rs376977643
NM_001715.3(BLK):c.1393T>C (p.Tyr465His)
NM_001715.3(BLK):c.1411G>C (p.Glu471Gln) rs1171913284
NM_001715.3(BLK):c.237G>A (p.Met79Ile)
NM_001715.3(BLK):c.269+13G>C rs144839649
NM_001715.3(BLK):c.311G>T (p.Arg104Ile) rs142298864
NM_001715.3(BLK):c.39G>A (p.Lys13=) rs142129056
NM_001715.3(BLK):c.473-7C>G rs200091252
NM_001715.3(BLK):c.530A>G (p.Tyr177Cys)
NM_001715.3(BLK):c.591G>T (p.Ser197=) rs140834602
NM_001715.3(BLK):c.617C>G (p.Ser206Cys) rs550720173
NM_001715.3(BLK):c.668C>T (p.Pro223Leu) rs202028021
NM_001715.3(BLK):c.712C>T (p.Arg238Trp) rs575123730
NM_001715.3(BLK):c.772+17G>A
NM_001715.3(BLK):c.824C>T (p.Thr275Ile) rs748444664
NM_001715.3(BLK):c.84C>A (p.Val28=) rs1585387563
NM_001715.3(BLK):c.868G>T (p.Ala290Ser)
NM_001715.3(BLK):c.922A>G (p.Ile308Val)
NM_001715.3(BLK):c.952G>A (p.Gly318Arg)
NM_001715.3(BLK):c.956G>T (p.Cys319Phe) rs1563123027

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