List of variants reported as likely pathogenic for Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_139058.3(ARX):c.1135C>A (p.Arg379Ser)	rs1556049714
NM_139058.3(ARX):c.1135C>T (p.Arg379Cys)	rs1556049714
NM_139058.3(ARX):c.1600G>C (p.Ala534Pro)
NM_139058.3(ARX):c.1615G>A (p.Ala539Thr)	rs2147318633
NM_139058.3(ARX):c.426_449dup (p.Gly143_Ala150dup)	rs1569395541

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