ClinVar Miner

List of variants in gene PHF6 studied for not specified

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Total variants: 9
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HGVS dbSNP gnomAD frequency
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.-47+8C>T rs762048465 0.00052
NM_001015877.2(PHF6):c.414C>T (p.Ser138=) rs200423380 0.00011
NM_001015877.2(PHF6):c.399A>G (p.Lys133=) rs780193840 0.00010
NM_001015877.2(PHF6):c.487C>T (p.Arg163Cys) rs199945885 0.00007
NM_001015877.2(PHF6):c.139-11_139-7del rs781657256
NM_001015877.2(PHF6):c.527C>T (p.Ser176Leu) rs587778604
NM_001015877.2(PHF6):c.729+5G>A rs993377069

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