ClinVar Miner

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

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000546.6(TP53):c.1031T>C (p.Leu344Pro) rs121912662
NM_000546.6(TP53):c.1040C>A (p.Ala347Asp) rs397516434
NM_000546.6(TP53):c.396G>C (p.Lys132Asn) rs866775781
NM_000546.6(TP53):c.403T>G (p.Cys135Gly) rs1057519975
NM_000546.6(TP53):c.428T>C (p.Val143Ala) rs1555526241
NM_000546.6(TP53):c.532C>G (p.His178Asp) rs1064795203
NM_000546.6(TP53):c.538G>A (p.Glu180Lys) rs879253911
NM_000546.6(TP53):c.641A>G (p.His214Arg) rs1057519992
NM_000546.6(TP53):c.919+1G>A rs1131691039
NM_000546.6(TP53):c.97-1G>A rs1597375294

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