ClinVar Miner

List of variants in gene PHF6 reported as pathogenic for Inborn genetic diseases

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001015877.2(PHF6):c.241-5_255del
NM_001015877.2(PHF6):c.673C>T (p.Arg225Ter) rs1556018932
NM_001015877.2(PHF6):c.820C>T (p.Arg274Ter) rs1556019107
NM_001015877.2(PHF6):c.915_916delinsAA (p.Cys305_Gly306delinsTer) rs797044908

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