ClinVar Miner

List of variants in gene PHF8 studied for X-linked disease

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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NM_015107.3(PHF8):c.-60C>T rs1557116325
NM_015107.3(PHF8):c.2258G>A (p.Arg753Gln) rs1263803925
NM_015107.3(PHF8):c.2444-2A>G rs1603305030
NM_015107.3(PHF8):c.2720G>A (p.Arg907His) rs142630105
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.836T>C (p.Phe279Ser) rs121918524

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