List of variants reported as pathogenic for X-linked disease by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 Xq26.3(chrX:135602028-136259908)x2
NM_000117.3(EMD):c.188-6A>G	rs2148128297
NM_001008537.3(NEXMIF):c.3244C>T (p.Gln1082Ter)	rs2080102486
NM_001015877.2(PHF6):c.255C>A (p.Cys85Ter)	rs1114167289
NM_001032382.2(PQBP1):c.463C>T (p.Arg155Ter)	rs1602330420
NM_001356.5(DDX3X):c.1703C>T (p.Pro568Leu)	rs1057519430
NM_001356.5(DDX3X):c.192dup (p.Asp65fs)	rs1057519431
NM_001356.5(DDX3X):c.362G>T (p.Arg121Leu)	rs1057519446
NM_003491.4(NAA10):c.215T>C (p.Ile72Thr)	rs1057519448
NM_004463.3(FGD1):c.1422del (p.Phe474fs)	rs2147432826
NM_004463.3(FGD1):c.367del (p.Ser122_Leu123insTer)	rs2147436223
NM_203475.3(PORCN):c.268C>T (p.Arg90Ter)	rs1114167283
Single allele

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