ClinVar Miner

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

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000546.6(TP53):c.883C>T (p.Pro295Ser) rs1131691006 0.00004
NM_000546.6(TP53):c.214C>G (p.Pro72Ala) rs587782769 0.00003
NM_000546.6(TP53):c.784G>A (p.Gly262Ser) rs200579969 0.00002
NM_000546.6(TP53):c.1000G>C (p.Gly334Arg) rs730882028 0.00001
NM_000546.6(TP53):c.393C>A (p.Asn131Lys) rs769270327 0.00001
NM_000546.6(TP53):c.523C>T (p.Arg175Cys) rs138729528 0.00001
NM_000546.6(TP53):c.800G>A (p.Arg267Gln) rs587780075 0.00001
NM_000546.6(TP53):c.1003C>T (p.Arg335Cys) rs375444154
NM_000546.6(TP53):c.206C>G (p.Ala69Gly) rs756233241
NM_000546.6(TP53):c.431A>T (p.Gln144Leu) rs786203071
NM_000546.6(TP53):c.541C>A (p.Arg181Ser) rs587782596

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