List of variants reported as likely pathogenic for syndromic intellectual disability by Genome-Nilou Lab

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_014795.4(ZEB2):c.3046C>T (p.Arg1016Ter)	rs886041989
NM_015100.4(POGZ):c.2520_2521del (p.His840fs)	rs886042027
NM_015100.4(POGZ):c.2849dup (p.Val951fs)	rs1653560615
NM_015100.4(POGZ):c.2989C>T (p.Arg997Ter)	rs1553212545
NM_015100.4(POGZ):c.3041del (p.Gln1014fs)	rs796052217
NM_015100.4(POGZ):c.3259C>T (p.Arg1087Ter)	rs879255404
NM_015100.4(POGZ):c.3424C>T (p.Arg1142Ter)	rs773311942
NM_015100.4(POGZ):c.3456_3457del (p.Glu1154fs)	rs869320764
NM_020699.4(GATAD2B):c.1198_1199del (p.Ser400fs)	rs1674480467
NM_020699.4(GATAD2B):c.1241G>A (p.Arg414Gln)	rs1057521041
NM_020699.4(GATAD2B):c.1432C>T (p.Arg478Ter)	rs761820222
NM_020699.4(GATAD2B):c.1438C>T (p.Gln480Ter)	rs1674313030
NM_020699.4(GATAD2B):c.597+1G>A	rs1570929867
NM_152564.5(VPS13B):c.4286_4287insT (p.Ala1431fs)	rs2133637251
NM_152564.5(VPS13B):c.5148del (p.Gln1717fs)	rs2133812056
NM_152564.5(VPS13B):c.760A>T (p.Lys254Ter)	rs910393433
NM_152564.5(VPS13B):c.7651C>T (p.Gln2551Ter)	rs2130679206

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