List of variants studied for X-linked syndromic intellectual disability by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_004595.5(SMS):c.799G>A (p.Gly267Arg)	rs757074790	0.00002
NM_000489.6(ATRX):c.3535G>A (p.Val1179Ile)	rs1569538665
NM_001081550.2(THOC2):c.133T>A (p.Phe45Ile)	rs1569441509
NM_001353921.2(ARHGEF9):c.332G>A (p.Arg111Gln)	rs1556401714
NM_001367721.1(CASK):c.2342_2343del (p.Asp781fs)	rs1569288603
NM_002547.3(OPHN1):c.1105-13_1109del	rs2077502210
NM_004187.5(KDM5C):c.2114G>A (p.Arg705His)	rs1569264240
NM_006517.5(SLC16A2):c.434G>A (p.Trp145Ter)	rs1555989364
NM_007325.5(GRIA3):c.2189G>C (p.Gly730Ala)	rs866395967
NM_031407.7(HUWE1):c.5986C>T (p.Arg1996Cys)	rs1602749982
NM_203475.3(PORCN):c.329+1G>A	rs1602070594

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