ClinVar Miner

List of variants reported as pathogenic for Li-Fraumeni syndrome 1 by Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000546.6(TP53):c.322_327dup (p.Phe109_Arg110insGlyPhe)
NM_000546.6(TP53):c.586C>T (p.Arg196Ter)	rs397516435
NM_000546.6(TP53):c.646G>A (p.Val216Met)	rs730882025

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