ClinVar Miner

List of variants reported for Li-Fraumeni syndrome 1 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000546.6(TP53):c.725G>A (p.Cys242Tyr) rs121912655 0.00001
NM_000546.6(TP53):c.817C>T (p.Arg273Cys) rs121913343 0.00001
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) rs28934574 0.00001
NM_000546.6(TP53):c.459del (p.Gly154fs) rs2543601628
NM_000546.6(TP53):c.469G>T (p.Val157Phe) rs121912654
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_000546.6(TP53):c.994-2A>G rs867389695

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