List of variants reported as pathogenic for Syndromic intellectual disability

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_024725.4(CCDC82):c.535C>T (p.Arg179Ter)	rs758691852	0.00002
NM_139315.3(TAF6):c.212T>C (p.Ile71Thr)	rs374993554	0.00002
GRCh38/hg38 19q13.2(chr19:41987984-42252574)x1
GRCh38/hg38 19q13.2(chr19:42198610-42249880)x1
NC_000019.10:g.41983952_42247520del
NM_001042424.3(NSD2):c.1363_1364dup (p.Asp455fs)	rs2108805708
NM_001244008.2(KIF1A):c.646C>T (p.Arg216Cys)	rs797045164
NM_005639.3(SYT1):c.1098C>G (p.Asp366Glu)	rs1565962725
NM_006766.5(KAT6A):c.3116_3117del (p.Ile1038_Ser1039insTer)	rs786200959
NM_006766.5(KAT6A):c.3879dup (p.Glu1294fs)	rs786200952

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