ClinVar Miner

List of variants reported as pathogenic for Li-Fraumeni syndrome by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000546.6(TP53):c.375G>A (p.Thr125=) rs55863639 0.00001
NM_000546.6(TP53):c.455C>T (p.Pro152Leu) rs587782705 0.00001
NM_000546.6(TP53):c.473G>A (p.Arg158His) rs587782144 0.00001
NM_000546.6(TP53):c.524G>A (p.Arg175His) rs28934578 0.00001
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) rs28934575 0.00001
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) rs730882029
NM_000546.6(TP53):c.586C>T (p.Arg196Ter) rs397516435
NM_000546.6(TP53):c.637C>T (p.Arg213Ter) rs397516436
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.6(TP53):c.949C>T (p.Gln317Ter) rs764735889

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