List of variants reported as likely pathogenic for X-linked disease by NeuroMeGen, Hospital Clinico Santiago de Compostela

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_006950.3(SYN1):c.1297C>T (p.His433Tyr)	rs41298474	0.00038
NM_000117.3(EMD):c.16del (p.Asp6fs)	rs1569552076
NM_000166.6(GJB1):c.547C>T (p.Arg183Cys)	rs863224471
NM_001353921.2(ARHGEF9):c.562G>C (p.Gly188Arg)	rs1556389083
NM_001830.4(CLCN4):c.1576G>A (p.Gly526Ser)	rs1555976973

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