List of variants in gene TP53 reported as pathogenic for Familial cancer of breast

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 16

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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.455C>T (p.Pro152Leu)	rs587782705	0.00001
NM_000546.6(TP53):c.524G>A (p.Arg175His)	rs28934578	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.390_426del (p.Asn131fs)	rs1597371154
NM_000546.6(TP53):c.400T>G (p.Phe134Val)	rs267605077
NM_000546.6(TP53):c.493C>T (p.Gln165Ter)	rs730882001
NM_000546.6(TP53):c.637C>T (p.Arg213Ter)	rs397516436
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.848_849del (p.Arg283fs)	rs2073188904
NM_000546.6(TP53):c.851_855del (p.Thr284fs)	rs2073187136

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