List of variants studied for X-linked syndromic intellectual disability by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001184880.2(PCDH19):c.1627C>T (p.Leu543=)	rs1953337	0.19198
NM_001015877.2(PHF6):c.374+8T>C	rs142596708	0.00360
NM_001184880.2(PCDH19):c.1683G>A (p.Pro561=)	rs192354176	0.00272
NM_001184880.2(PCDH19):c.3280C>G (p.Leu1094Val)	rs184545774	0.00151
NM_001079872.2(CUL4B):c.1857C>T (p.Cys619=)	rs148700620	0.00099
NM_031206.7(LAS1L):c.1341A>G (p.Ala447=)	rs766767923	0.00007
NM_031407.7(HUWE1):c.3896G>A (p.Arg1299Gln)	rs781793405	0.00001
NM_004187.5(KDM5C):c.2517-15T>A
NM_007325.5(GRIA3):c.268+16762dup	rs11452643
NM_031206.7(LAS1L):c.2051G>A (p.Arg684Gln)	rs900809839
NM_031407.7(HUWE1):c.10973G>A (p.Cys3658Tyr)

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