ClinVar Miner

List of variants in gene combination BSCL2, HNRNPUL2-BSCL2 studied for not provided

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Gene type:
ClinVar version:
Total variants: 133
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HGVS dbSNP gnomAD frequency
NM_001122955.4(BSCL2):c.766-49T>C rs2850597 0.75076
NM_001122955.4(BSCL2):c.765+69A>G rs2850596 0.74808
NM_001122955.4(BSCL2):c.88-459G>A rs56135662 0.16808
NM_001122955.4(BSCL2):c.486+11G>T rs72929434 0.16805
NM_001122955.4(BSCL2):c.1137A>G (p.Glu379=) rs6856 0.16571
NM_001122955.4(BSCL2):c.1153+26C>T rs76184645 0.03990
NM_001122955.4(BSCL2):c.765+15C>T rs79586077 0.03596
NM_001122955.4(BSCL2):c.487-255C>T rs76541361 0.03061
NM_001122955.4(BSCL2):c.1006-50T>G rs72929419 0.02144
NM_001122955.4(BSCL2):c.766-79G>T rs74388071 0.01789
NM_001122955.4(BSCL2):c.404+207A>T rs868827991 0.01361
NM_001122955.4(BSCL2):c.88-662C>A rs117597269 0.01291
NM_001122955.4(BSCL2):c.630+64G>T rs73483955 0.01231
NM_001122955.4(BSCL2):c.487-34A>T rs181164682 0.01099
NM_001122955.4(BSCL2):c.486+123G>A rs142930529 0.00938
NM_001122955.4(BSCL2):c.486+182C>T rs191422290 0.00817
NM_001122955.4(BSCL2):c.1234+20G>A rs113229350 0.00638
NM_001122955.4(BSCL2):c.88-444G>C rs77741515 0.00443
NM_001122955.4(BSCL2):c.88-142C>G rs191835830 0.00352
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro) rs145649423 0.00301
NM_001122955.4(BSCL2):c.845C>T (p.Ala282Val) rs185341934 0.00096
NM_001122955.4(BSCL2):c.487-14G>A rs189771133 0.00080
NM_001122955.4(BSCL2):c.124C>T (p.Arg42Cys) rs201493373 0.00061
NM_001122955.4(BSCL2):c.1100C>T (p.Pro367Leu) rs144245125 0.00048
NM_001122955.4(BSCL2):c.1031C>T (p.Ser344Phe) rs140676897 0.00043
NM_001122955.4(BSCL2):c.1102C>A (p.Gln368Lys) rs149990643 0.00040
NM_001122955.4(BSCL2):c.823G>A (p.Gly275Arg) rs151018278 0.00036
NM_001122955.4(BSCL2):c.299G>T (p.Cys100Phe) rs147314661 0.00023
NM_001122955.4(BSCL2):c.615C>T (p.Ser205=) rs140208002 0.00019
NM_001122955.4(BSCL2):c.1367G>A (p.Arg456His) rs149466797 0.00016
NM_001122955.4(BSCL2):c.861C>T (p.Leu287=) rs370926100 0.00016
NM_001122955.4(BSCL2):c.133G>A (p.Gly45Ser) rs3763853 0.00014
NM_001122955.4(BSCL2):c.844G>A (p.Ala282Thr) rs190842600 0.00014
NM_001122955.4(BSCL2):c.448G>A (p.Val150Ile) rs149412531 0.00013
NM_001122955.4(BSCL2):c.1234+7G>A rs200631909 0.00011
NM_001122955.4(BSCL2):c.588C>T (p.Cys196=) rs369806785 0.00011
NM_001122955.4(BSCL2):c.745G>A (p.Ala249Thr) rs10776 0.00010
NM_001122955.4(BSCL2):c.939C>T (p.Ile313=) rs200300686 0.00010
NM_001122955.4(BSCL2):c.1147G>A (p.Gly383Arg) rs772516974 0.00006
NM_001122955.4(BSCL2):c.432A>T (p.Ser144=) rs144774892 0.00006
NM_001122955.4(BSCL2):c.1201G>A (p.Gly401Arg) rs138964424 0.00005
NM_001122955.4(BSCL2):c.885G>A (p.Pro295=) rs559783362 0.00005
NM_001122955.4(BSCL2):c.1145C>T (p.Ser382Leu) rs149907021 0.00004
NM_001122955.4(BSCL2):c.1282C>T (p.Pro428Ser) rs369732238 0.00004
NM_001122955.4(BSCL2):c.934G>A (p.Val312Ile) rs754683462 0.00004
NM_001122955.4(BSCL2):c.1168G>A (p.Glu390Lys) rs141518903 0.00003
NM_001122955.4(BSCL2):c.532C>G (p.Leu178Val) rs760613992 0.00003
NM_001122955.4(BSCL2):c.1034G>A (p.Arg345Gln) rs202072835 0.00002
NM_001122955.4(BSCL2):c.1193C>G (p.Pro398Arg) rs778931376 0.00002
NM_001122955.4(BSCL2):c.420C>T (p.Ser140=) rs780093151 0.00002
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser) rs137852972 0.00002
NM_001122955.4(BSCL2):c.809G>A (p.Arg270His) rs763884653 0.00002
NM_001122955.4(BSCL2):c.835C>T (p.Arg279Cys) rs759231362 0.00002
NM_001122955.4(BSCL2):c.1049G>A (p.Arg350Gln) rs749917957 0.00001
NM_001122955.4(BSCL2):c.1069C>T (p.Pro357Ser) rs781022347 0.00001
NM_001122955.4(BSCL2):c.1264C>G (p.Leu422Val) rs772442281 0.00001
NM_001122955.4(BSCL2):c.1354G>T (p.Ala452Ser) rs1060503382 0.00001
NM_001122955.4(BSCL2):c.1376G>C (p.Cys459Ser) rs775890636 0.00001
NM_001122955.4(BSCL2):c.285T>G (p.Phe95Leu) rs568354548 0.00001
NM_001122955.4(BSCL2):c.405-11A>G rs1434874435 0.00001
NM_001122955.4(BSCL2):c.425C>T (p.Thr142Ile) rs750176844 0.00001
NM_001122955.4(BSCL2):c.457G>A (p.Val153Ile) rs1378410413 0.00001
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu) rs137852973 0.00001
NM_001122955.4(BSCL2):c.466A>G (p.Thr156Ala) rs137930278 0.00001
NM_001122955.4(BSCL2):c.486+1G>A rs1011200048 0.00001
NM_001122955.4(BSCL2):c.487-9C>T rs768857448 0.00001
NM_001122955.4(BSCL2):c.512G>T (p.Arg171Leu) rs377609967 0.00001
NM_001122955.4(BSCL2):c.605G>A (p.Arg202Gln) rs771534001 0.00001
NM_001122955.4(BSCL2):c.630+11G>T rs779498581 0.00001
NM_001122955.4(BSCL2):c.666G>C (p.Met222Ile) rs755623017 0.00001
NM_001122955.4(BSCL2):c.765G>A (p.Ser255=) rs774120735 0.00001
NM_001122955.4(BSCL2):c.933C>T (p.Ser311=) rs748195771 0.00001
NM_001122955.4(BSCL2):c.984C>T (p.Pro328=) rs1350933194 0.00001
NM_001122955.4(BSCL2):c.1005+4G>A rs367731146
NM_001122955.4(BSCL2):c.1005+4G>T rs367731146
NM_001122955.4(BSCL2):c.1006-2A>G rs879254029
NM_001122955.4(BSCL2):c.1006-8C>T rs1057521013
NM_001122955.4(BSCL2):c.103G>T (p.Ala35Ser)
NM_001122955.4(BSCL2):c.1043T>A (p.Val348Asp)
NM_001122955.4(BSCL2):c.1167C>T (p.Ser389=) rs17850877
NM_001122955.4(BSCL2):c.1179A>T (p.Lys393Asn) rs1945283531
NM_001122955.4(BSCL2):c.1207GAG[1] (p.Glu404del) rs556562410
NM_001122955.4(BSCL2):c.1234+4A>C
NM_001122955.4(BSCL2):c.1282CCTGCT[4] (p.428PA[4]) rs771054711
NM_001122955.4(BSCL2):c.1299TTCTGC[3] (p.434SA[3]) rs747175358
NM_001122955.4(BSCL2):c.1300T>G (p.Ser434Ala) rs199584887
NM_001122955.4(BSCL2):c.1309G>C (p.Ala437Pro) rs199787351
NM_001122955.4(BSCL2):c.1325C>T (p.Thr442Ile) rs876661160
NM_001122955.4(BSCL2):c.132T>A (p.Gly44=) rs1565152933
NM_001122955.4(BSCL2):c.1361G>T (p.Arg454Leu) rs143017094
NM_001122955.4(BSCL2):c.1369C>T (p.Pro457Ser) rs769048111
NM_001122955.4(BSCL2):c.1385C>A (p.Ser462Tyr) rs1945271930
NM_001122955.4(BSCL2):c.242G>A (p.Gly81Asp) rs2134740844
NM_001122955.4(BSCL2):c.272T>C (p.Leu91Pro) rs879253928
NM_001122955.4(BSCL2):c.311T>A (p.Leu104His) rs990055355
NM_001122955.4(BSCL2):c.325T>C (p.Ser109Pro) rs2134740612
NM_001122955.4(BSCL2):c.351C>T (p.Tyr117=)
NM_001122955.4(BSCL2):c.404+207dup rs566098807
NM_001122955.4(BSCL2):c.404+225del rs566098807
NM_001122955.4(BSCL2):c.404G>C (p.Arg135Thr) rs2083508651
NM_001122955.4(BSCL2):c.405-205_405-202del rs113202502
NM_001122955.4(BSCL2):c.409G>A (p.Asp137Asn) rs879253900
NM_001122955.4(BSCL2):c.419C>G (p.Ser140Cys) rs1590881712
NM_001122955.4(BSCL2):c.422C>T (p.Ser141Phe) rs1590881708
NM_001122955.4(BSCL2):c.430T>C (p.Ser144Pro)
NM_001122955.4(BSCL2):c.445C>G (p.Pro149Ala) rs1554985014
NM_001122955.4(BSCL2):c.487-129G>T rs2845671
NM_001122955.4(BSCL2):c.509_513del (p.Tyr170fs) rs587777608
NM_001122955.4(BSCL2):c.547G>A (p.Val183Met)
NM_001122955.4(BSCL2):c.618TTC[1] (p.Ser208del)
NM_001122955.4(BSCL2):c.631-10C>G rs1476658275
NM_001122955.4(BSCL2):c.631-6C>A rs768294248
NM_001122955.4(BSCL2):c.634A>G (p.Met212Val)
NM_001122955.4(BSCL2):c.680TCT[1] (p.Phe228del) rs1131691748
NM_001122955.4(BSCL2):c.744C>T (p.Tyr248=)
NM_001122955.4(BSCL2):c.769G>C (p.Val257Leu) rs779513433
NM_001122955.4(BSCL2):c.770T>A (p.Val257Glu) rs1057523660
NM_001122955.4(BSCL2):c.773C>G (p.Pro258Arg)
NM_001122955.4(BSCL2):c.783A>G (p.Gly261=) rs1565144454
NM_001122955.4(BSCL2):c.806A>G (p.Lys269Arg) rs781217574
NM_001122955.4(BSCL2):c.88-613G>A rs112877243
NM_001122955.4(BSCL2):c.88-663G>A rs117862461
NM_001122955.4(BSCL2):c.88-673T>C
NM_001122955.4(BSCL2):c.884C>T (p.Pro295Leu) rs1390537161
NM_001122955.4(BSCL2):c.907G>A (p.Val303Ile) rs2134692047
NM_001122955.4(BSCL2):c.923C>T (p.Thr308Ile) rs758460754
NM_001122955.4(BSCL2):c.937A>G (p.Ile313Val)
NM_001122955.4(BSCL2):c.938T>C (p.Ile313Thr)
NM_001122955.4(BSCL2):c.943C>T (p.Leu315Phe)
NM_001122955.4(BSCL2):c.968G>A (p.Trp323Ter)
NM_001122955.4(BSCL2):c.968G>T (p.Trp323Leu) rs367783346
NM_001122955.4(BSCL2):c.973G>A (p.Gly325Ser) rs760106114
NM_001122955.4(BSCL2):c.974dup (p.Ile326fs) rs749890533

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