List of variants reported as pathogenic for X-linked disease by Centogene AG - the Rare Disease Company

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter)	rs80338714	0.00003
NM_000444.6(PHEX):c.*231A>G	rs946863800	0.00001
NM_001008222.3(ZDHHC9):c.286C>T (p.Arg96Trp)	rs1131690786
NM_001008537.3(NEXMIF):c.1882C>T (p.Arg628Ter)	rs786205208
NM_004463.3(FGD1):c.527del (p.Pro176fs)	rs756586058
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp)	rs886039763
NM_031407.7(HUWE1):c.646-1G>A	rs2149065229
NM_033380.3(COL4A5):c.1374delinsTT (p.Pro459fs)	rs2147798059
NM_033380.3(COL4A5):c.1418_1419del (p.Val473fs)	rs2147798228
NM_033380.3(COL4A5):c.347del (p.Pro116fs)	rs2147746687

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