ClinVar Miner

List of variants in gene PHF6 reported as benign for Borjeson-Forssman-Lehmann syndrome

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Gene type:
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001015877.2(PHF6):c.139-47G>A rs5978001 0.75584
NM_001015877.2(PHF6):c.927C>T (p.Asp309=) rs112199174 0.00809
NM_001015877.2(PHF6):c.729+4A>G rs188961105 0.00691
NM_001015877.2(PHF6):c.730-11T>G rs192977933 0.00364
NM_001015877.2(PHF6):c.374+8T>C rs142596708 0.00360
NM_001015877.2(PHF6):c.241-13C>T rs375674521 0.00015
NM_001015877.2(PHF6):c.414C>T (p.Ser138=) rs200423380 0.00010
NM_001015877.2(PHF6):c.714C>T (p.Ala238=) rs761180935 0.00008
NM_001015877.2(PHF6):c.240+10T>C rs750243844 0.00001
NM_001015877.2(PHF6):c.138+10C>T rs778255925
NM_001015877.2(PHF6):c.139-11_139-7del rs781657256
NM_001015877.2(PHF6):c.241-17T>C
NM_001015877.2(PHF6):c.274A>G (p.Ile92Val)
NM_001015877.2(PHF6):c.374+16_374+20del
NM_001015877.2(PHF6):c.399A>G (p.Lys133=) rs780193840
NM_001015877.2(PHF6):c.407A>G (p.His136Arg)
NM_001015877.2(PHF6):c.537C>G (p.Thr179=)
NM_001015877.2(PHF6):c.585+14dup
NM_001015877.2(PHF6):c.586-18T>C
NM_001015877.2(PHF6):c.648T>C (p.His216=)

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