ClinVar Miner

List of variants in gene TP53 reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000546.6(TP53):c.374C>T (p.Thr125Met) rs786201057 0.00001
NM_000546.6(TP53):c.472C>T (p.Arg158Cys) rs587780068 0.00001
NM_000546.6(TP53):c.380C>T (p.Ser127Phe) rs730881999
NM_000546.6(TP53):c.420_431del (p.Cys141_Gln144del) rs2543603895
NM_000546.6(TP53):c.473G>T (p.Arg158Leu) rs587782144
NM_000546.6(TP53):c.712T>G (p.Cys238Gly) rs1057519981
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000546.6(TP53):c.811G>A (p.Glu271Lys) rs1060501191
NM_000546.6(TP53):c.843C>A (p.Asp281Glu) rs1057519984
NM_000546.6(TP53):c.919+2T>A rs1131691016

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