ClinVar Miner

List of variants in gene PHF8 reported by Baylor Genetics

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_015107.3(PHF8):c.-56C>T rs376594438 0.00002
NM_015107.3(PHF8):c.1185T>C (p.His395=) rs1468021929
NM_015107.3(PHF8):c.1233+6T>C
NM_015107.3(PHF8):c.1349A>G (p.Lys450Arg) rs2065708006
NM_015107.3(PHF8):c.197G>A (p.Arg66His) rs1557110261
NM_015107.3(PHF8):c.2129+39G>C rs2065554551
NM_015107.3(PHF8):c.2345G>C (p.Arg782Pro) rs782358977
NM_015107.3(PHF8):c.377del (p.Leu126fs) rs1057518729

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