List of variants reported as pathogenic for X-linked disease by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
GRCh38/hg38 Xp11.4(chrX:41333187-42099271)x1
GRCh38/hg38 Xq24(chrX:119582581-119589158)x0
GRCh38/hg38 Xq28(chrX:150592508-150619237)x0
GRCh38/hg38 Xq28(chrX:154375606-154392000)x0
NM_001039591.3(USP9X):c.323-1G>A
NM_001039591.3(USP9X):c.6547del (p.Phe2182_Val2183insTer)
NM_001184880.2(PCDH19):c.1958_1959del (p.Ser653fs)	rs796052835
NM_001356.5(DDX3X):c.1807C>T (p.Arg603Ter)	rs886041705
NM_001356.5(DDX3X):c.894C>A (p.Cys298Ter)
NM_001367721.1(CASK):c.1915C>T (p.Arg639Ter)	rs137852815
NM_001367721.1(CASK):c.1970G>A (p.Trp657Ter)	rs1602253509
NM_004463.3(FGD1):c.527dup (p.Leu177fs)	rs756586058
NM_005120.3(MED12):c.5898dup (p.Ser1967fs)	rs879255527
NM_181672.3(OGT):c.1942A>T (p.Asn648Tyr)	rs1602152230
NM_203475.3(PORCN):c.283C>T (p.Arg95Ter)	rs1602070472

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