ClinVar Miner

List of variants in gene BCL11B reported as likely pathogenic for not provided

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_138576.4(BCL11B):c.1097G>A (p.Arg366Gln) rs1566794698
NM_138576.4(BCL11B):c.1097_1140delinsCAGC (p.Arg366fs) rs2139760184
NM_138576.4(BCL11B):c.1283C>A (p.Ser428Ter) rs2139759343
NM_138576.4(BCL11B):c.1460_1461insT (p.Ser488fs)
NM_138576.4(BCL11B):c.1904_1939del (p.Asp635_Gly646del)
NM_138576.4(BCL11B):c.1944_1965del (p.Gly649fs) rs1886427331
NM_138576.4(BCL11B):c.2346_2361del (p.Gly783fs) rs2139753299
NM_138576.4(BCL11B):c.2403C>A (p.Cys801Ter)
NM_138576.4(BCL11B):c.2472C>A (p.Tyr824Ter) rs1886394733
NM_138576.4(BCL11B):c.2507G>A (p.Ser836Asn) rs2139752892
NM_138576.4(BCL11B):c.2534C>T (p.Thr845Met)
NM_138576.4(BCL11B):c.2536C>G (p.His846Asp)
NM_138576.4(BCL11B):c.2616_2617del (p.Met873fs) rs2139752497

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