ClinVar Miner

List of variants in gene TP63 reported as pathogenic by OMIM

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Gene type:
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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_003722.5(TP63):c.289C>T (p.Arg97Cys) rs121908848 0.00001
NM_003722.5(TP63):c.727C>T (p.Arg243Trp) rs121908835 0.00001
NM_003722.5(TP63):c.728G>A (p.Arg243Gln) rs121908836 0.00001
NM_001114980.2(TP63):c.16A>C (p.Asn6His) rs113993963
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.1028G>A (p.Arg343Gln) rs121908841
NM_003722.5(TP63):c.1033T>C (p.Cys345Arg) rs121908837
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.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.1691dup (p.Tyr564Ter) rs2108864810
NM_003722.5(TP63):c.1693_1694del (p.Phe565fs) rs2108864814
NM_003722.5(TP63):c.1703del (p.Gln568fs)
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.1827del (p.Glu609fs) rs2108873431
NM_003722.5(TP63):c.1833_1843dup (p.His615fs)
NM_003722.5(TP63):c.1861del (p.Ser621fs) rs1721306735
NM_003722.5(TP63):c.1900del (p.Arg634fs) rs2108874029
NM_003722.5(TP63):c.1927C>T (p.Arg643Ter) rs1560311554
NM_003722.5(TP63):c.1939C>T (p.Arg647Cys)
NM_003722.5(TP63):c.1976del (p.Asn659fs) rs2108874645
NM_003722.5(TP63):c.290G>C (p.Arg97Pro)
NM_003722.5(TP63):c.697A>G (p.Lys233Glu) rs121908838
NM_003722.5(TP63):c.797G>A (p.Arg266Gln) rs121908849
NM_003722.5(TP63):c.797G>C (p.Arg266Pro) rs121908849
NM_003722.5(TP63):c.819_820dup (p.Gln274fs) rs1560277554
NM_003722.5(TP63):c.953G>A (p.Arg318His) rs121908840
NM_003722.5(TP63):c.955C>T (p.Arg319Cys) rs121908839
P127L
TP63, VAL114MET

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