ClinVar Miner

List of variants reported as pathogenic for Li-Fraumeni syndrome 1 by ClinGen TP53 Variant Curation Expert Panel, ClinGen

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000546.6(TP53):c.711G>A (p.Met237Ile) rs587782664 0.00001
NM_000546.6(TP53):c.380C>A (p.Ser127Tyr) rs730881999
NM_000546.6(TP53):c.636del (p.Arg213fs) rs864309495
NM_000546.6(TP53):c.814G>A (p.Val272Met) rs121912657

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