List of variants reported as pathogenic for X-linked disease by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)	rs104886142	0.00005
NM_000132.4(F8):c.5122C>T (p.Arg1708Cys)	rs111033613	0.00001
NM_001110556.2(FLNA):c.1910C>T (p.Pro637Leu)	rs267606815	0.00001
NM_001256789.3(CACNA1F):c.1840C>T (p.Arg614Ter)	rs886039559	0.00001
NM_000033.4(ABCD1):c.1772G>A (p.Arg591Gln)	rs1557054873
NM_000033.4(ABCD1):c.887A>G (p.Tyr296Cys)	rs797044610
NM_000252.3(MTM1):c.1644+1G>A	rs398123272
NM_000444.6(PHEX):c.397C>T (p.Gln133Ter)	rs151306376
NM_001032382.2(PQBP1):c.586C>T (p.Arg196Ter)	rs1557041672
NM_001252024.2(TRPM1):c.4793_4796dup (p.Ser1600fs)	rs2031777349
NM_001256789.3(CACNA1F):c.694A>T (p.Lys232Ter)	rs1057518829
NM_001278116.2(L1CAM):c.1108G>A (p.Gly370Arg)	rs137852524
NM_001356.5(DDX3X):c.643A>T (p.Lys215Ter)	rs2063876197
NM_004463.3(FGD1):c.1695+1G>A	rs1922506770
NM_033380.3(COL4A5):c.1033-1G>A	rs2066339336

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