List of variants in gene PHF8 reported as pathogenic for Syndromic X-linked intellectual disability Siderius type

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_015107.3(PHF8):c.1880del (p.Lys627fs)	rs2065590491
NM_015107.3(PHF8):c.377del (p.Leu126fs)	rs1057518729
NM_015107.3(PHF8):c.529A>T (p.Lys177Ter)	rs121918523
NM_015107.3(PHF8):c.631C>T (p.Arg211Ter)	rs121918522
NM_015107.3(PHF8):c.738dup (p.His247fs)
NM_015107.3(PHF8):c.836T>C (p.Phe279Ser)	rs121918524
NM_015107.3(PHF8):c.943_946+8del

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