ClinVar Miner

List of variants in gene TP53 reported as likely pathogenic for Hereditary breast ovarian cancer syndrome

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_000546.6(TP53):c.542G>A (p.Arg181His) rs397514495 0.00001
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) rs730882005 0.00001
NM_000546.6(TP53):c.1039del (p.Ala347fs)
NM_000546.6(TP53):c.375+2T>C rs1555526469
NM_000546.6(TP53):c.375+5G>A rs1555526466
NM_000546.6(TP53):c.581T>G (p.Leu194Arg) rs1057519998
NM_000546.6(TP53):c.738G>A (p.Met246Ile) rs1019340046

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