ClinVar Miner

List of variants in gene BSCL2, HNRNPUL2-BSCL2 studied for Inborn genetic diseases

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Total variants: 93
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HGVS dbSNP gnomAD frequency
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro) rs145649423 0.00296
NM_001122955.4(BSCL2):c.845C>T (p.Ala282Val) rs185341934 0.00109
NM_001122955.4(BSCL2):c.1100C>T (p.Pro367Leu) rs144245125 0.00047
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 0.00032
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.992G>A (p.Arg331His) rs201229787 0.00019
NM_001122955.4(BSCL2):c.1367G>A (p.Arg456His) rs149466797 0.00017
NM_001122955.4(BSCL2):c.785C>T (p.Ala262Val) rs140896339 0.00017
NM_001122955.4(BSCL2):c.861C>T (p.Leu287=) rs370926100 0.00016
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.588C>T (p.Cys196=) rs369806785 0.00011
NM_001122955.4(BSCL2):c.939C>T (p.Ile313=) rs200300686 0.00011
NM_001122955.4(BSCL2):c.745G>A (p.Ala249Thr) rs10776 0.00010
NM_001122955.4(BSCL2):c.1202G>A (p.Gly401Glu) rs767463971 0.00008
NM_001122955.4(BSCL2):c.1143C>T (p.Pro381=) rs150914934 0.00007
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.1017A>G (p.Arg339=) rs147902831 0.00004
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.620C>G (p.Ser207Cys) rs746973203 0.00004
NM_001122955.4(BSCL2):c.870G>C (p.Leu290=) rs767104988 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.1193C>G (p.Pro398Arg) rs778931376 0.00003
NM_001122955.4(BSCL2):c.359A>G (p.Tyr120Cys) rs370905417 0.00003
NM_001122955.4(BSCL2):c.497A>G (p.Tyr166Cys) rs371113921 0.00003
NM_001122955.4(BSCL2):c.621T>C (p.Ser207=) rs777598096 0.00003
NM_001122955.4(BSCL2):c.1034G>A (p.Arg345Gln) rs202072835 0.00002
NM_001122955.4(BSCL2):c.1097C>T (p.Thr366Ile) rs1424325463 0.00002
NM_001122955.4(BSCL2):c.1288C>T (p.Pro430Ser) rs377310581 0.00002
NM_001122955.4(BSCL2):c.420C>T (p.Ser140=) rs780093151 0.00002
NM_001122955.4(BSCL2):c.469A>G (p.Lys157Glu) rs773548699 0.00002
NM_001122955.4(BSCL2):c.632T>C (p.Val211Ala) rs1291966839 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.1004A>C (p.Gln335Pro) rs779199750 0.00001
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.1071A>G (p.Pro357=) rs113336810 0.00001
NM_001122955.4(BSCL2):c.1101G>A (p.Pro367=) rs746737457 0.00001
NM_001122955.4(BSCL2):c.1220C>T (p.Pro407Leu) rs925294616 0.00001
NM_001122955.4(BSCL2):c.1254T>C (p.Asp418=) rs776343859 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.249C>T (p.Val83=) rs746722132 0.00001
NM_001122955.4(BSCL2):c.265C>T (p.Arg89Cys) rs771754989 0.00001
NM_001122955.4(BSCL2):c.270G>T (p.Arg90Ser) rs756668260 0.00001
NM_001122955.4(BSCL2):c.408C>T (p.Thr136=) rs754001369 0.00001
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser) rs137852972 0.00001
NM_001122955.4(BSCL2):c.466A>G (p.Thr156Ala) rs137930278 0.00001
NM_001122955.4(BSCL2):c.604C>T (p.Arg202Ter) rs137852970 0.00001
NM_001122955.4(BSCL2):c.631-6C>T rs768294248 0.00001
NM_001122955.4(BSCL2):c.660C>T (p.Leu220=) rs950978890 0.00001
NM_001122955.4(BSCL2):c.666G>C (p.Met222Ile) rs755623017 0.00001
NM_001122955.4(BSCL2):c.864-6C>T rs1945308147 0.00001
NM_001122955.4(BSCL2):c.1005+3C>T rs372166360
NM_001122955.4(BSCL2):c.1005+4G>T rs367731146
NM_001122955.4(BSCL2):c.1025A>C (p.Asp342Ala) rs761151329
NM_001122955.4(BSCL2):c.1167C>T (p.Ser389=) rs17850877
NM_001122955.4(BSCL2):c.1193C>T (p.Pro398Leu) rs778931376
NM_001122955.4(BSCL2):c.1207GAG[1] (p.Glu404del) rs556562410
NM_001122955.4(BSCL2):c.1270G>C (p.Glu424Gln) rs2539143136
NM_001122955.4(BSCL2):c.1282CCTGCT[4] (p.428PA[4]) rs771054711
NM_001122955.4(BSCL2):c.1299TTCTGC[1] (p.434SA[1]) rs747175358
NM_001122955.4(BSCL2):c.1315G>A (p.Val439Ile) rs1945274424
NM_001122955.4(BSCL2):c.1317C>A (p.Val439=) rs1057516190
NM_001122955.4(BSCL2):c.1330G>A (p.Gly444Ser) rs1488410118
NM_001122955.4(BSCL2):c.204C>G (p.Asp68Glu) rs757487761
NM_001122955.4(BSCL2):c.247G>A (p.Val83Ile) rs770641122
NM_001122955.4(BSCL2):c.289G>A (p.Val97Met) rs2083510633
NM_001122955.4(BSCL2):c.306C>T (p.Ile102=) rs1554985612
NM_001122955.4(BSCL2):c.338A>G (p.Tyr113Cys) rs148132646
NM_001122955.4(BSCL2):c.359A>T (p.Tyr120Phe) rs370905417
NM_001122955.4(BSCL2):c.506C>T (p.Pro169Leu) rs1325008761
NM_001122955.4(BSCL2):c.580A>G (p.Ile194Val) rs2539154680
NM_001122955.4(BSCL2):c.631-6C>G rs768294248
NM_001122955.4(BSCL2):c.743A>G (p.Tyr248Cys)
NM_001122955.4(BSCL2):c.762C>G (p.Asn254Lys)
NM_001122955.4(BSCL2):c.764C>T (p.Ser255Leu) rs761806607
NM_001122955.4(BSCL2):c.765G>T (p.Ser255=) rs774120735
NM_001122955.4(BSCL2):c.769G>C (p.Val257Leu) rs779513433
NM_001122955.4(BSCL2):c.810C>T (p.Arg270=) rs998498207
NM_001122955.4(BSCL2):c.864A>G (p.Arg288=)
NM_001122955.4(BSCL2):c.868C>G (p.Leu290Val) rs772582974
NM_001122955.4(BSCL2):c.905G>A (p.Gly302Asp) rs1181403099
NM_001122955.4(BSCL2):c.908T>C (p.Val303Ala) rs1945306544
NM_001122955.4(BSCL2):c.968G>T (p.Trp323Leu) rs367783346

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