ClinVar Miner

List of variants in gene combination BSCL2, HNRNPUL2-BSCL2 reported as uncertain significance for Inborn genetic diseases

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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_001122955.4(BSCL2):c.1031C>T (p.Ser344Phe) rs140676897 0.00043
NM_001122955.4(BSCL2):c.299G>T (p.Cys100Phe) rs147314661 0.00023
NM_001122955.4(BSCL2):c.844G>A (p.Ala282Thr) rs190842600 0.00014
NM_001122955.4(BSCL2):c.1202G>A (p.Gly401Glu) rs767463971 0.00008
NM_001122955.4(BSCL2):c.1147G>A (p.Gly383Arg) rs772516974 0.00006
NM_001122955.4(BSCL2):c.1201G>A (p.Gly401Arg) rs138964424 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.620C>G (p.Ser207Cys) rs746973203 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.1034G>A (p.Arg345Gln) rs202072835 0.00002
NM_001122955.4(BSCL2):c.1193C>G (p.Pro398Arg) rs778931376 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.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.1354G>T (p.Ala452Ser) rs1060503382 0.00001
NM_001122955.4(BSCL2):c.1376G>C (p.Cys459Ser) rs775890636 0.00001
NM_001122955.4(BSCL2):c.270G>T (p.Arg90Ser) rs756668260 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.1097C>T (p.Thr366Ile)
NM_001122955.4(BSCL2):c.1193C>T (p.Pro398Leu) rs778931376
NM_001122955.4(BSCL2):c.1220C>T (p.Pro407Leu)
NM_001122955.4(BSCL2):c.1270G>C (p.Glu424Gln)
NM_001122955.4(BSCL2):c.1282CCTGCT[4] (p.428PA[4]) rs771054711
NM_001122955.4(BSCL2):c.1315G>A (p.Val439Ile)
NM_001122955.4(BSCL2):c.1330G>A (p.Gly444Ser) rs1488410118
NM_001122955.4(BSCL2):c.204C>G (p.Asp68Glu)
NM_001122955.4(BSCL2):c.247G>A (p.Val83Ile) rs770641122
NM_001122955.4(BSCL2):c.265C>T (p.Arg89Cys)
NM_001122955.4(BSCL2):c.289G>A (p.Val97Met) rs2083510633
NM_001122955.4(BSCL2):c.338A>G (p.Tyr113Cys)
NM_001122955.4(BSCL2):c.359A>T (p.Tyr120Phe) rs370905417
NM_001122955.4(BSCL2):c.497A>G (p.Tyr166Cys)
NM_001122955.4(BSCL2):c.580A>G (p.Ile194Val)
NM_001122955.4(BSCL2):c.631-6C>G rs768294248
NM_001122955.4(BSCL2):c.764C>T (p.Ser255Leu)
NM_001122955.4(BSCL2):c.769G>C (p.Val257Leu) rs779513433
NM_001122955.4(BSCL2):c.868C>G (p.Leu290Val)
NM_001122955.4(BSCL2):c.905G>A (p.Gly302Asp)
NM_001122955.4(BSCL2):c.908T>C (p.Val303Ala)
NM_001122955.4(BSCL2):c.968G>T (p.Trp323Leu) rs367783346

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