ClinVar Miner

List of variants reported as pathogenic for Li-Fraumeni syndrome 1 by OMIM

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Total variants: 19
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HGVS dbSNP
NM_000546.5(TP53):c.1031T>C (p.Leu344Pro) rs121912662
NM_000546.5(TP53):c.398T>C (p.Met133Thr) rs28934873
NM_000546.5(TP53):c.412G>C (p.Ala138Pro) rs28934875
NM_000546.5(TP53):c.455dup (p.Pro153fs) rs730882019
NM_000546.5(TP53):c.524G>A (p.Arg175His) rs28934578
NM_000546.5(TP53):c.532del (p.His178fs) rs786202525
NM_000546.5(TP53):c.628_629del (p.Asn210fs) rs587776768
NM_000546.5(TP53):c.659A>C (p.Tyr220Ser) rs121912666
NM_000546.5(TP53):c.733G>T (p.Gly245Cys) rs28934575
NM_000546.5(TP53):c.734G>A (p.Gly245Asp) rs121912656
NM_000546.5(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.5(TP53):c.743G>A (p.Arg248Gln) rs11540652
NM_000546.5(TP53):c.755T>C (p.Leu252Pro) rs121912653
NM_000546.5(TP53):c.772G>A (p.Glu258Lys) rs121912652
NM_000546.5(TP53):c.814G>T (p.Val272Leu) rs121912657
NM_000546.5(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.5(TP53):c.875A>T (p.Lys292Ile) rs121912663
TP53, 1-BP DEL, CODON 257
TP53, 11-BP DEL/5-BP INS

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