List of variants reported as likely pathogenic for Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_138576.4(BCL11B):c.1206del (p.Phe403fs)	rs2503648320
NM_138576.4(BCL11B):c.1535_1536del (p.Ala512fs)	rs2503645451
NM_138576.4(BCL11B):c.1582del (p.His528fs)	rs2139757991
NM_138576.4(BCL11B):c.1742del (p.Gly581fs)	rs1886447945
NM_138576.4(BCL11B):c.2421C>G (p.Asn807Lys)	rs888230251
NM_138576.4(BCL11B):c.2439_2452dup (p.His818fs)	rs2139753087
NM_138576.4(BCL11B):c.2448_2461del (p.Ser817fs)	rs2139753037
NM_138576.4(BCL11B):c.2474dup (p.Cys826fs)
NM_138576.4(BCL11B):c.2507G>A (p.Ser836Asn)	rs2139752892
NM_138576.4(BCL11B):c.2513A>G (p.Lys838Arg)	rs2503636087
NM_138576.4(BCL11B):c.363dup (p.Asp122fs)
NM_138576.4(BCL11B):c.785G>A (p.Arg262Gln)	rs1886516216
NM_138576.4(BCL11B):c.908del (p.Pro303fs)

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