List of variants reported as pathogenic for X-linked intellectual disability-epilepsy syndrome by OMIM

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001184880.2(PCDH19):c.1036_1040dup (p.Asn347fs)	rs2147539848
NM_001184880.2(PCDH19):c.1091dup (p.Tyr366fs)	rs758946412
NM_001184880.2(PCDH19):c.1322T>A (p.Val441Glu)	rs132630323
NM_001184880.2(PCDH19):c.142G>T (p.Glu48Ter)	rs132630326
NM_001184880.2(PCDH19):c.1671C>G (p.Asn557Lys)	rs267606933
NM_001184880.2(PCDH19):c.2012C>G (p.Ser671Ter)	rs132630325
NM_001184880.2(PCDH19):c.2030dup (p.Leu677fs)	rs1569314152
NM_001184880.2(PCDH19):c.253C>T (p.Gln85Ter)	rs132630324
NM_001353921.2(ARHGEF9):c.185G>C (p.Gly62Ala)	rs121918361
NM_001353921.2(ARHGEF9):c.4C>T (p.Gln2Ter)	rs397514460
NM_005765.3(ATP6AP2):c.168+6T>A	rs1057519331
NM_005765.3(ATP6AP2):c.301-11_301-10del	rs1926795050
NM_005765.3(ATP6AP2):c.321C>T (p.Asp107=)	rs121918521

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