ClinVar Miner

List of variants in gene PHF8 reported by Ambry Genetics

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Gene type:
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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_015107.3(PHF8):c.441T>G (p.Val147=) rs148215758 0.02301
NM_015107.3(PHF8):c.2720G>A (p.Arg907His) rs142630105 0.00233
NM_015107.3(PHF8):c.606C>T (p.Asn202=) rs77581173 0.00204
NM_015107.3(PHF8):c.219T>A (p.Asp73Glu) rs148664730 0.00123
NM_015107.3(PHF8):c.2131G>A (p.Glu711Lys) rs41306749 0.00089
NM_015107.3(PHF8):c.2205G>A (p.Ser735=) rs144282765 0.00047
NM_015107.3(PHF8):c.2130-3C>T rs374079855 0.00025
NM_015107.3(PHF8):c.612G>A (p.Val204=) rs137998994 0.00013
NM_015107.3(PHF8):c.258G>A (p.Thr86=) rs144007511 0.00009
NM_015107.3(PHF8):c.2544C>T (p.Arg848=) rs782783842 0.00007
NM_015107.3(PHF8):c.1627-3C>T rs893607213 0.00005
NM_015107.3(PHF8):c.1725C>T (p.Asn575=) rs374668419 0.00004
NM_015107.3(PHF8):c.872T>C (p.Met291Thr) rs1157683205 0.00004
NM_015107.3(PHF8):c.635A>G (p.Lys212Arg) rs1232258803 0.00003
NM_015107.3(PHF8):c.2299A>G (p.Asn767Asp) rs199974926 0.00002
NM_015107.3(PHF8):c.2845C>T (p.Leu949Phe) rs1342892989 0.00002
NM_015107.3(PHF8):c.912C>T (p.Ser304=) rs782306751 0.00002
NM_015107.3(PHF8):c.2761A>G (p.Thr921Ala) rs782215609 0.00001
NM_015107.3(PHF8):c.1147C>A (p.Arg383=)
NM_015107.3(PHF8):c.1191C>A (p.Gly397=)
NM_015107.3(PHF8):c.1234G>A (p.Ala412Thr)
NM_015107.3(PHF8):c.1269A>G (p.Thr423=) rs1557102649
NM_015107.3(PHF8):c.132C>G (p.Asp44Glu)
NM_015107.3(PHF8):c.1352C>T (p.Thr451Met)
NM_015107.3(PHF8):c.1422C>T (p.Ser474=) rs1569527485
NM_015107.3(PHF8):c.1517G>A (p.Arg506Gln) rs183611806
NM_015107.3(PHF8):c.1733C>T (p.Thr578Met)
NM_015107.3(PHF8):c.1827C>T (p.Asp609=)
NM_015107.3(PHF8):c.1848T>C (p.Asp616=)
NM_015107.3(PHF8):c.1932T>C (p.Arg644=)
NM_015107.3(PHF8):c.1935G>A (p.Ala645=)
NM_015107.3(PHF8):c.2204C>T (p.Ser735Leu)
NM_015107.3(PHF8):c.2225dup (p.Ser742fs) rs1557099144
NM_015107.3(PHF8):c.2317C>T (p.Arg773Cys)
NM_015107.3(PHF8):c.2318G>A (p.Arg773His)
NM_015107.3(PHF8):c.2364C>T (p.Thr788=)
NM_015107.3(PHF8):c.2405A>C (p.Gln802Pro) rs1569526703
NM_015107.3(PHF8):c.2620G>A (p.Ala874Thr)
NM_015107.3(PHF8):c.2640G>C (p.Leu880=)
NM_015107.3(PHF8):c.2790CTC[2] (p.Ser933del) rs782660284
NM_015107.3(PHF8):c.2870G>A (p.Arg957His)
NM_015107.3(PHF8):c.2882T>C (p.Phe961Ser)
NM_015107.3(PHF8):c.2896G>A (p.Ala966Thr)
NM_015107.3(PHF8):c.2902C>T (p.Arg968Cys)
NM_015107.3(PHF8):c.2931C>T (p.Val977=)
NM_015107.3(PHF8):c.2947C>A (p.Arg983Ser)
NM_015107.3(PHF8):c.336C>T (p.Thr112=) rs781824188
NM_015107.3(PHF8):c.550A>C (p.Arg184=)
NM_015107.3(PHF8):c.744T>C (p.Ile248=)
NM_015107.3(PHF8):c.817A>G (p.Asn273Asp)
NM_015107.3(PHF8):c.842G>C (p.Cys281Ser)
NM_015107.3(PHF8):c.936C>T (p.Phe312=)

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