ClinVar Miner

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

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001015877.2(PHF6):c.487C>T (p.Arg163Cys) rs199945885 0.00007
NM_001015877.2(PHF6):c.528A>G (p.Ser176=) rs150815514 0.00004
NM_001015877.2(PHF6):c.132G>A (p.Lys44=) rs759708359 0.00002
NM_001015877.2(PHF6):c.1017T>C (p.Asp339=)
NM_001015877.2(PHF6):c.138+11C>T
NM_001015877.2(PHF6):c.139-13del rs2077286325
NM_001015877.2(PHF6):c.139-15A>T
NM_001015877.2(PHF6):c.234G>A (p.Thr78=)
NM_001015877.2(PHF6):c.241-18T>C
NM_001015877.2(PHF6):c.241-7G>T
NM_001015877.2(PHF6):c.294A>C (p.Thr98=)
NM_001015877.2(PHF6):c.324A>G (p.Ala108=)
NM_001015877.2(PHF6):c.374+17T>C
NM_001015877.2(PHF6):c.374+22_374+26del
NM_001015877.2(PHF6):c.375-4del
NM_001015877.2(PHF6):c.418+17C>T
NM_001015877.2(PHF6):c.419-16G>A
NM_001015877.2(PHF6):c.419-16G>C
NM_001015877.2(PHF6):c.585+14A>C rs2124248594
NM_001015877.2(PHF6):c.586-14T>C
NM_001015877.2(PHF6):c.730-16C>A
NM_001015877.2(PHF6):c.762A>C (p.Thr254=)
NM_001015877.2(PHF6):c.804A>G (p.Val268=)
NM_001015877.2(PHF6):c.835-16C>A
NM_001015877.2(PHF6):c.84T>C (p.Cys28=)
NM_001015877.2(PHF6):c.870T>C (p.Ile290=)

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