ClinVar Miner

List of variants in gene BCL11B reported as uncertain significance for Inborn genetic diseases

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Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_138576.4(BCL11B):c.1904A>G (p.Asp635Gly) rs1056645820 0.00005
NM_138576.4(BCL11B):c.1907A>G (p.Asp636Gly) rs1043387726 0.00004
NM_138576.4(BCL11B):c.514C>T (p.Arg172Cys) rs557598154 0.00004
NM_138576.4(BCL11B):c.484C>A (p.Pro162Thr) rs370751575 0.00003
NM_138576.4(BCL11B):c.1445G>C (p.Gly482Ala) rs1162718386 0.00002
NM_138576.4(BCL11B):c.1524G>C (p.Glu508Asp) rs781338395 0.00002
NM_138576.4(BCL11B):c.1735G>A (p.Ala579Thr) rs1274911424 0.00002
NM_138576.4(BCL11B):c.1795A>G (p.Met599Val) rs374549866 0.00002
NM_138576.4(BCL11B):c.1883C>T (p.Ala628Val) rs770369592 0.00002
NM_138576.4(BCL11B):c.82G>A (p.Ala28Thr) rs766014776 0.00002
NM_138576.4(BCL11B):c.1048C>T (p.Arg350Cys) rs1283850331 0.00001
NM_138576.4(BCL11B):c.1271C>A (p.Ala424Asp) rs758437652 0.00001
NM_138576.4(BCL11B):c.1516G>A (p.Ala506Thr) rs771992057 0.00001
NM_138576.4(BCL11B):c.1908C>G (p.Asp636Glu) rs946484398 0.00001
NM_138576.4(BCL11B):c.2275C>G (p.Leu759Val) rs1412064788 0.00001
NM_138576.4(BCL11B):c.380T>C (p.Leu127Pro) rs753885134 0.00001
NM_138576.4(BCL11B):c.850G>T (p.Gly284Cys) rs756498434 0.00001
NM_138576.4(BCL11B):c.1105G>A (p.Glu369Lys) rs1196405993
NM_138576.4(BCL11B):c.1138G>C (p.Val380Leu)
NM_138576.4(BCL11B):c.1151G>A (p.Arg384His)
NM_138576.4(BCL11B):c.1165C>T (p.His389Tyr) rs2503648702
NM_138576.4(BCL11B):c.1259C>G (p.Pro420Arg) rs770601161
NM_138576.4(BCL11B):c.1347C>G (p.His449Gln) rs1886477022
NM_138576.4(BCL11B):c.1358A>G (p.Lys453Arg) rs2503646867
NM_138576.4(BCL11B):c.140T>C (p.Met47Thr)
NM_138576.4(BCL11B):c.1444G>T (p.Gly482Cys)
NM_138576.4(BCL11B):c.1468G>A (p.Asp490Asn) rs1886470068
NM_138576.4(BCL11B):c.1699G>A (p.Glu567Lys)
NM_138576.4(BCL11B):c.1705G>A (p.Gly569Ser)
NM_138576.4(BCL11B):c.1711G>A (p.Gly571Ser) rs754368274
NM_138576.4(BCL11B):c.1727T>G (p.Val576Gly) rs774231990
NM_138576.4(BCL11B):c.1736C>T (p.Ala579Val) rs1214962641
NM_138576.4(BCL11B):c.1784T>C (p.Leu595Pro)
NM_138576.4(BCL11B):c.1940C>T (p.Ala647Val) rs944528801
NM_138576.4(BCL11B):c.2007C>A (p.Phe669Leu) rs2503639949
NM_138576.4(BCL11B):c.2020G>T (p.Ala674Ser)
NM_138576.4(BCL11B):c.2180T>C (p.Leu727Pro)
NM_138576.4(BCL11B):c.2227C>A (p.His743Asn)
NM_138576.4(BCL11B):c.2231C>T (p.Ser744Leu) rs1206789646
NM_138576.4(BCL11B):c.2274C>A (p.Asp758Glu)
NM_138576.4(BCL11B):c.2293T>C (p.Ser765Pro) rs1247218127
NM_138576.4(BCL11B):c.2299C>T (p.Arg767Cys) rs1209514650
NM_138576.4(BCL11B):c.2314A>C (p.Ser772Arg)
NM_138576.4(BCL11B):c.272A>G (p.Lys91Arg) rs2503927093
NM_138576.4(BCL11B):c.298C>G (p.Pro100Ala) rs2503926798
NM_138576.4(BCL11B):c.2T>C (p.Met1Thr)
NM_138576.4(BCL11B):c.301T>G (p.Ser101Ala)
NM_138576.4(BCL11B):c.310T>G (p.Ser104Ala)
NM_138576.4(BCL11B):c.44G>C (p.Arg15Thr)
NM_138576.4(BCL11B):c.455C>T (p.Ala152Val) rs1201537871
NM_138576.4(BCL11B):c.460G>A (p.Ala154Thr) rs2503834785
NM_138576.4(BCL11B):c.488A>G (p.His163Arg) rs2503834514
NM_138576.4(BCL11B):c.566G>T (p.Arg189Leu) rs775853703
NM_138576.4(BCL11B):c.884C>G (p.Thr295Arg)
NM_138576.4(BCL11B):c.916G>T (p.Gly306Cys) rs1277024568
NM_138576.4(BCL11B):c.976G>T (p.Asp326Tyr) rs1377895486

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