ClinVar Miner

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

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000546.6(TP53):c.1079G>C (p.Gly360Ala) rs35993958 0.00019
NM_000546.6(TP53):c.217G>A (p.Val73Met) rs587782423 0.00011
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) rs149633775 0.00009
NM_000546.6(TP53):c.1096T>G (p.Ser366Ala) rs17881470 0.00004
NM_000546.6(TP53):c.28G>A (p.Val10Ile) rs535274413 0.00004
NM_000546.6(TP53):c.554G>A (p.Ser185Asn) rs150607408 0.00004
NM_000546.6(TP53):c.1120G>C (p.Gly374Arg) rs587781858 0.00003
NM_000546.6(TP53):c.329G>A (p.Arg110His) rs11540654 0.00003
NM_000546.6(TP53):c.145G>A (p.Asp49Asn) rs587780728 0.00001
NM_000546.6(TP53):c.21T>A (p.Asp7Glu) rs587781277 0.00001
NM_000546.6(TP53):c.221C>T (p.Ala74Val) rs587781832 0.00001
NM_000546.6(TP53):c.245C>T (p.Pro82Leu) rs534447939 0.00001
NM_000546.6(TP53):c.250G>A (p.Ala84Thr) rs587781307 0.00001
NM_000546.6(TP53):c.572C>G (p.Pro191Arg) rs587778718 0.00001
NM_000546.6(TP53):c.877G>T (p.Gly293Trp) rs587780076 0.00001
NM_000546.6(TP53):c.943T>A (p.Ser315Thr) rs762620193 0.00001
NM_000546.6(TP53):c.1015G>C (p.Glu339Gln) rs17882252
NM_000546.6(TP53):c.1093C>T (p.His365Tyr) rs267605075
NM_000546.6(TP53):c.1163A>C (p.Glu388Ala) rs587781736
NM_000546.6(TP53):c.144C>A (p.Asp48Glu) rs587781460
NM_000546.6(TP53):c.886C>T (p.His296Tyr) rs672601296
NM_000546.6(TP53):c.892G>A (p.Glu298Lys) rs201744589

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