List of variants reported as pathogenic for X-linked disease by Center of Genomic medicine, Geneva, University Hospital of Geneva

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000166.6(GJB1):c.424C>T (p.Arg142Trp)	rs104894810	0.00001
NM_033380.3(COL4A5):c.4315+1G>A	rs587776403	0.00001
NM_000489.6(ATRX):c.6122G>A (p.Ser2041Asn)	rs1060499658
NM_001008537.3(NEXMIF):c.3470C>A (p.Ser1157Ter)	rs1060499652
NM_001079872.2(CUL4B):c.1404_1405del (p.Val469fs)	rs1556206910
NM_001111125.3(IQSEC2):c.2477T>C (p.Met826Thr)	rs1060499660
NM_001272071.2(AP1S2):c.1-3C>A	rs1060499672
NM_001278116.2(L1CAM):c.2380C>T (p.Gln794Ter)	rs875989884
NM_001367721.1(CASK):c.1837C>T (p.Arg613Ter)	rs779508996
NM_004187.5(KDM5C):c.769_770del (p.Leu257fs)	rs1060499661
NM_033380.3(COL4A5):c.2288G>A (p.Gly763Glu)	rs281874689
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg)	rs104886189

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