ClinVar Miner

List of variants in gene TP53 reported as likely pathogenic by GeneDx

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Gene type:
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Total variants: 51
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HGVS dbSNP gnomAD frequency
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.1101-1G>A rs876658982
NM_000546.6(TP53):c.1101-2A>G rs587781664
NM_000546.6(TP53):c.128T>A (p.Leu43Ter) rs1555526777
NM_000546.6(TP53):c.273_279del (p.Trp91fs) rs1064796124
NM_000546.6(TP53):c.322_339del (p.Gly108_Phe113del) rs886039495
NM_000546.6(TP53):c.325T>G (p.Phe109Val) rs1057523496
NM_000546.6(TP53):c.327_328del (p.Phe109fs) rs1064795434
NM_000546.6(TP53):c.332T>C (p.Leu111Pro) rs1057519997
NM_000546.6(TP53):c.358A>G (p.Lys120Glu) rs121912658
NM_000546.6(TP53):c.375+1dup rs1555526470
NM_000546.6(TP53):c.376T>G (p.Tyr126Asp) rs886039483
NM_000546.6(TP53):c.434T>A (p.Leu145Gln) rs587782197
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) rs28934874
NM_000546.6(TP53):c.464C>A (p.Thr155Asn) rs786202752
NM_000546.6(TP53):c.473G>C (p.Arg158Pro) rs587782144
NM_000546.6(TP53):c.476C>T (p.Ala159Val) rs1555526131
NM_000546.6(TP53):c.482C>A (p.Ala161Asp) rs1064795691
NM_000546.6(TP53):c.514_517dup (p.Val173fs) rs1555526064
NM_000546.6(TP53):c.526T>A (p.Cys176Ser) rs967461896
NM_000546.6(TP53):c.535C>A (p.His179Asn) rs587780070
NM_000546.6(TP53):c.537T>G (p.His179Gln) rs876660821
NM_000546.6(TP53):c.538G>A (p.Glu180Lys) rs879253911
NM_000546.6(TP53):c.569CTC[1] (p.Pro191del) rs1555525902
NM_000546.6(TP53):c.578_580delinsCAGACCTAAA (p.His193fs) rs2151027982
NM_000546.6(TP53):c.580C>T (p.Leu194Phe) rs587780071
NM_000546.6(TP53):c.583A>T (p.Ile195Phe) rs942158624
NM_000546.6(TP53):c.596G>T (p.Gly199Val) rs1555525857
NM_000546.6(TP53):c.641A>G (p.His214Arg) rs1057519992
NM_000546.6(TP53):c.643A>G (p.Ser215Gly) rs886039484
NM_000546.6(TP53):c.658T>A (p.Tyr220Asn) rs530941076
NM_000546.6(TP53):c.707A>C (p.Tyr236Ser) rs730882026
NM_000546.6(TP53):c.707A>G (p.Tyr236Cys) rs730882026
NM_000546.6(TP53):c.715A>G (p.Asn239Asp) rs876660807
NM_000546.6(TP53):c.716A>G (p.Asn239Ser) rs1057519999
NM_000546.6(TP53):c.722C>G (p.Ser241Cys) rs28934573
NM_000546.6(TP53):c.734G>C (p.Gly245Ala) rs121912656
NM_000546.6(TP53):c.737T>G (p.Met246Arg) rs587780074
NM_000546.6(TP53):c.749C>T (p.Pro250Leu) rs1064794311
NM_000546.6(TP53):c.752T>G (p.Ile251Ser) rs730882027
NM_000546.6(TP53):c.761TCA[1] (p.Ile255del) rs1064794309
NM_000546.6(TP53):c.797G>A (p.Gly266Glu) rs193920774
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000546.6(TP53):c.809T>C (p.Phe270Ser) rs1057519986
NM_000546.6(TP53):c.809T>G (p.Phe270Cys) rs1057519986
NM_000546.6(TP53):c.827C>A (p.Ala276Asp) rs786202082
NM_000546.6(TP53):c.829T>C (p.Cys277Arg) rs1064795369
NM_000546.6(TP53):c.830G>A (p.Cys277Tyr) rs763098116
NM_000546.6(TP53):c.981T>G (p.Tyr327Ter) rs879254077
NM_000546.6(TP53):c.993G>A (p.Gln331=) rs11575996

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