ClinVar Miner

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

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000546.6(TP53):c.467G>A (p.Arg156His) rs371524413 0.00003
NM_000546.6(TP53):c.353C>T (p.Thr118Ile) rs1064794141 0.00001
NM_000546.6(TP53):c.370T>A (p.Cys124Ser) rs730881997 0.00001
NM_000546.6(TP53):c.37C>T (p.Pro13Ser) rs1060501208 0.00001
NM_000546.6(TP53):c.461G>A (p.Gly154Asp) rs762846821 0.00001
NM_000546.6(TP53):c.607G>A (p.Val203Met) rs730882003 0.00001
NM_000546.6(TP53):c.946C>A (p.Pro316Thr) rs772773208 0.00001
NM_000546.6(TP53):c.1009C>A (p.Arg337Ser) rs587782529
NM_000546.6(TP53):c.214_215delinsTG (p.Pro72Cys) rs730882014
NM_000546.6(TP53):c.436T>G (p.Trp146Gly) rs786203064
NM_000546.6(TP53):c.46C>A (p.Gln16Lys) rs2151047550
NM_000546.6(TP53):c.511G>A (p.Glu171Lys) rs587781845
NM_000546.6(TP53):c.845G>T (p.Arg282Leu) rs730882008
NM_000546.6(TP53):c.85AAC[1] (p.Asn30del) rs587782270
NM_000546.6(TP53):c.97-3C>T rs786203749

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