List of variants reported as pathogenic for X-linked syndromic intellectual disability by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000489.6(ATRX):c.109C>T (p.Arg37Ter)	rs122445108
NM_001008537.3(NEXMIF):c.4075dup (p.Ser1359fs)	rs1556016224
NM_001015877.2(PHF6):c.1024C>T (p.Arg342Ter)	rs132630297
NM_001015877.2(PHF6):c.2T>C (p.Met1Thr)	rs132630300
NM_001039591.3(USP9X):c.1812_1815del (p.Gln605fs)	rs2147080697
NM_001079872.2(CUL4B):c.953_957del (p.Ile318fs)	rs1085307760
NM_001184880.2(PCDH19):c.2143dup (p.Cys715fs)
NM_001353921.2(ARHGEF9):c.920G>A (p.Trp307Ter)	rs1556358991
NM_001356.5(DDX3X):c.71C>A (p.Ser24Ter)	rs2147340483
NM_003491.4(NAA10):c.384T>G (p.Phe128Leu)	rs878853263
NM_006517.5(SLC16A2):c.439G>A (p.Gly147Arg)	rs1602140936
NM_006950.3(SYN1):c.1001del (p.Asn334fs)	rs1603051674
NM_031407.7(HUWE1):c.329G>A (p.Arg110Gln)	rs1557036768

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