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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 24

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HGVS	dbSNP	gnomAD frequency
NM_138576.4(BCL11B):c.1048C>T (p.Arg350Cys)
NM_138576.4(BCL11B):c.1165C>T (p.His389Tyr)
NM_138576.4(BCL11B):c.1259C>G (p.Pro420Arg)
NM_138576.4(BCL11B):c.1347C>G (p.His449Gln)	rs1886477022
NM_138576.4(BCL11B):c.1445G>C (p.Gly482Ala)
NM_138576.4(BCL11B):c.1516G>A (p.Ala506Thr)
NM_138576.4(BCL11B):c.1727T>G (p.Val576Gly)
NM_138576.4(BCL11B):c.1736C>T (p.Ala579Val)
NM_138576.4(BCL11B):c.1883C>T (p.Ala628Val)
NM_138576.4(BCL11B):c.1904A>G (p.Asp635Gly)
NM_138576.4(BCL11B):c.1907A>G (p.Asp636Gly)
NM_138576.4(BCL11B):c.1908C>G (p.Asp636Glu)
NM_138576.4(BCL11B):c.1940C>T (p.Ala647Val)
NM_138576.4(BCL11B):c.2231C>T (p.Ser744Leu)	rs1206789646
NM_138576.4(BCL11B):c.2275C>G (p.Leu759Val)
NM_138576.4(BCL11B):c.2293T>C (p.Ser765Pro)
NM_138576.4(BCL11B):c.272A>G (p.Lys91Arg)
NM_138576.4(BCL11B):c.298C>G (p.Pro100Ala)
NM_138576.4(BCL11B):c.380T>C (p.Leu127Pro)
NM_138576.4(BCL11B):c.455C>T (p.Ala152Val)	rs1201537871
NM_138576.4(BCL11B):c.460G>A (p.Ala154Thr)
NM_138576.4(BCL11B):c.488A>G (p.His163Arg)
NM_138576.4(BCL11B):c.566G>T (p.Arg189Leu)
NM_138576.4(BCL11B):c.916G>T (p.Gly306Cys)	rs1277024568

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