ClinVar Miner

List of variants in gene TP63 reported as pathogenic

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Total variants: 52
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HGVS dbSNP
NM_003722.5(TP63):c.1009C>G (p.Arg337Gly) rs113993966
NM_003722.5(TP63):c.1010G>A (p.Arg337Gln) rs113993967
NM_003722.5(TP63):c.1027C>T (p.Arg343Trp) rs886041251
NM_003722.5(TP63):c.1028G>A (p.Arg343Gln) rs121908841
NM_003722.5(TP63):c.1033T>C (p.Cys345Arg) rs121908837
NM_003722.5(TP63):c.1037C>G (p.Ala346Gly) rs797044484
NM_003722.5(TP63):c.1040G>T (p.Cys347Phe) rs1064793282
NM_003722.5(TP63):c.1052A>G (p.Asp351Gly) rs121908844
NM_003722.5(TP63):c.1054A>G (p.Arg352Gly) rs121908847
NM_003722.5(TP63):c.1063G>A (p.Asp355Asn) rs1553857889
NM_003722.5(TP63):c.1350-75_1492del
NM_003722.5(TP63):c.1646T>C (p.Ile549Thr) rs121908845
NM_003722.5(TP63):c.1659A>T (p.Leu553Phe) rs121908842
NM_003722.5(TP63):c.1681T>G (p.Cys561Gly) rs121908843
NM_003722.5(TP63):c.1693T>G (p.Phe565Val)
NM_003722.5(TP63):c.1727T>C (p.Ile576Thr) rs1057517841
NM_003722.5(TP63):c.1738T>C (p.Ser580Pro) rs121908846
NM_003722.5(TP63):c.1780C>T (p.Arg594Ter) rs900140738
NM_003722.5(TP63):c.1794G>A (p.Trp598Ter) rs1560311010
NM_003722.5(TP63):c.1837_1841del (p.Pro613fs) rs794727122
NM_003722.5(TP63):c.1846del (p.Leu616fs) rs113993964
NM_003722.5(TP63):c.1963del (p.Arg655fs) rs797044843
NM_003722.5(TP63):c.289C>T (p.Arg97Cys) rs121908848
NM_003722.5(TP63):c.325-18446del rs1553840705
NM_003722.5(TP63):c.325-18456A>C rs113993963
NM_003722.5(TP63):c.518G>A (p.Gly173Asp) rs113993965
NM_003722.5(TP63):c.518G>T (p.Gly173Val) rs113993965
NM_003722.5(TP63):c.547C>T (p.Gln183Ter) rs1057520750
NM_003722.5(TP63):c.694A>G (p.Lys232Glu) rs1560274243
NM_003722.5(TP63):c.697A>G (p.Lys233Glu) rs121908838
NM_003722.5(TP63):c.698_700del (p.Lys233_Ala234delinsThr) rs1560274283
NM_003722.5(TP63):c.727C>T (p.Arg243Trp) rs121908835
NM_003722.5(TP63):c.728G>A (p.Arg243Gln) rs121908836
NM_003722.5(TP63):c.739C>T (p.His247Tyr) rs1553856553
NM_003722.5(TP63):c.740A>G (p.His247Arg) rs864621968
NM_003722.5(TP63):c.797G>A (p.Arg266Gln) rs121908849
NM_003722.5(TP63):c.819_820dup (p.Gln274fs) rs1560277554
NM_003722.5(TP63):c.935G>A (p.Cys312Tyr) rs1057520664
NM_003722.5(TP63):c.952C>T (p.Arg318Cys)
NM_003722.5(TP63):c.953G>A (p.Arg318His) rs121908840
NM_003722.5(TP63):c.955C>T (p.Arg319Cys) rs121908839
NM_003722.5(TP63):c.956G>A (p.Arg319His) rs886039442
TP63, 1-BP DEL, 1709A
TP63, 1-BP DEL, 1783C
TP63, 1-BP DEL, 1859A
TP63, 1-BP INS, 1572A
TP63, 11-BP DUP, NT1716
TP63, 2-BP DEL, 1576TT
TP63, 2-BP DEL, 1743AA
TP63, ARG227PRO
TP63, PRO127LEU
TP63, VAL114MET

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