ClinVar Miner

List of variants in gene TP53 studied for Familial cancer of breast

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Total variants: 29
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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.903A>G (p.Pro301=) rs72661120 0.00003
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_000546.6(TP53):c.-11G>A rs773666793 0.00001
NM_000546.6(TP53):c.455C>T (p.Pro152Leu) rs587782705 0.00001
NM_000546.6(TP53):c.524G>A (p.Arg175His) rs28934578 0.00001
NM_000546.6(TP53):c.541C>T (p.Arg181Cys) rs587782596 0.00001
NM_000546.6(TP53):c.542G>A (p.Arg181His) rs397514495 0.00001
NM_000546.6(TP53):c.725G>A (p.Cys242Tyr) rs121912655 0.00001
NM_000546.6(TP53):c.840A>T (p.Arg280Ser) rs1567547687 0.00001
NM_000546.6(TP53):c.1039G>A (p.Ala347Thr) rs1597349147
NM_000546.6(TP53):c.322G>C (p.Gly108Arg) rs587782461
NM_000546.6(TP53):c.386C>T (p.Ala129Val) rs137852792
NM_000546.6(TP53):c.390_426del (p.Asn131fs) rs1597371154
NM_000546.6(TP53):c.400T>G (p.Phe134Val) rs267605077
NM_000546.6(TP53):c.414del (p.Lys139fs) rs137852794
NM_000546.6(TP53):c.493C>T (p.Gln165Ter) rs730882001
NM_000546.6(TP53):c.626G>A (p.Arg209Lys) rs2073332791
NM_000546.6(TP53):c.637C>T (p.Arg213Ter) rs397516436
NM_000546.6(TP53):c.63C>T (p.Asp21=) rs1800369
NM_000546.6(TP53):c.708C>G (p.Tyr236Ter) rs1597365202
NM_000546.6(TP53):c.730G>T (p.Gly244Cys) rs1057519989
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.829T>C (p.Cys277Arg) rs1064795369
NM_000546.6(TP53):c.848_849del (p.Arg283fs) rs2073188904
NM_000546.6(TP53):c.851_855del (p.Thr284fs) rs2073187136
NM_000546.6(TP53):c.917G>A (p.Arg306Gln) rs1048095040
NM_000546.6(TP53):c.993+2T>G rs1597359053

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