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

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_001184880.2(PCDH19):c.1031C>G (p.Pro344Arg)	rs796052811
NM_001184880.2(PCDH19):c.1091dup (p.Tyr366fs)	rs758946412
NM_001184880.2(PCDH19):c.1118dup (p.Ser374fs)	rs2147539591
NM_001184880.2(PCDH19):c.1172del (p.Asn391fs)	rs1602636591
NM_001184880.2(PCDH19):c.134_135del (p.Asp45fs)	rs1602638456
NM_001184880.2(PCDH19):c.1535C>A (p.Ser512Ter)	rs779665170
NM_001184880.2(PCDH19):c.1623del (p.Ser542fs)	rs1602635781
NM_001184880.2(PCDH19):c.2341dup (p.Ile781fs)	rs1060502175
NM_001184880.2(PCDH19):c.2624del (p.Asn875fs)	rs34651888
NM_001184880.2(PCDH19):c.2697dup (p.Glu900fs)	rs1602595101
NM_001184880.2(PCDH19):c.493A>C (p.Thr165Pro)	rs2147541749
NM_001184880.2(PCDH19):c.498C>A (p.Tyr166Ter)	rs796052837
NM_001184880.2(PCDH19):c.729C>A (p.Tyr243Ter)	rs1166554052
NM_001184880.2(PCDH19):c.937G>T (p.Glu313Ter)	rs1602636952
NM_001353921.2(ARHGEF9):c.178G>T (p.Glu60Ter)	rs1602577529

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