List of variants in gene BCL11B reported as uncertain significance for intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities

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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: 12

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HGVS	dbSNP	gnomAD frequency
NM_138576.4(BCL11B):c.1858C>T (p.Arg620Cys)	rs200835381	0.00005
NM_138576.4(BCL11B):c.1679C>T (p.Ser560Leu)	rs1200651928	0.00001
NM_138576.4(BCL11B):c.1130C>T (p.Pro377Leu)	rs1273945817
NM_138576.4(BCL11B):c.1219C>G (p.Pro407Ala)
NM_138576.4(BCL11B):c.1219C>T (p.Pro407Ser)
NM_138576.4(BCL11B):c.1657G>C (p.Glu553Gln)	rs1283714584
NM_138576.4(BCL11B):c.1748C>T (p.Ala583Val)
NM_138576.4(BCL11B):c.182G>T (p.Cys61Phe)	rs2139953989
NM_138576.4(BCL11B):c.2222C>T (p.Ser741Phe)	rs2139754017
NM_138576.4(BCL11B):c.334C>G (p.Pro112Ala)
NM_138576.4(BCL11B):c.814G>C (p.Glu272Gln)
NM_138576.4(BCL11B):c.992G>T (p.Ser331Ile)

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