ClinVar Miner

List of variants in gene TP63 reported as likely pathogenic for TP63-Related Spectrum Disorders

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Gene type:
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_003722.5(TP63):c.109C>T (p.Arg37Ter) rs147340040 0.00001
NM_003722.5(TP63):c.1028G>A (p.Arg343Gln) rs121908841
NM_003722.5(TP63):c.1061C>A (p.Ala354Glu) rs1718026198
NM_003722.5(TP63):c.1674T>G (p.Cys558Trp)
NM_003722.5(TP63):c.1681T>G (p.Cys561Gly) rs121908843
NM_003722.5(TP63):c.1682G>A (p.Cys561Tyr) rs1057518399
NM_003722.5(TP63):c.1695C>G (p.Phe565Leu) rs2108864831
NM_003722.5(TP63):c.1768C>T (p.Pro590Ser)
NM_003722.5(TP63):c.1769C>T (p.Pro590Leu) rs2108873027
NM_003722.5(TP63):c.1789A>T (p.Ile597Phe) rs2108873176
NM_003722.5(TP63):c.1973G>A (p.Trp658Ter) rs2108874622
NM_003722.5(TP63):c.497C>A (p.Pro166His) rs1560204773
NM_003722.5(TP63):c.517G>A (p.Gly173Ser) rs1057521750
NM_003722.5(TP63):c.604T>C (p.Tyr202His)
NM_003722.5(TP63):c.731G>T (p.Cys244Phe)
NM_003722.5(TP63):c.738C>G (p.Asn246Lys) rs1192374789
NM_003722.5(TP63):c.797G>T (p.Arg266Leu) rs121908849
NM_003722.5(TP63):c.929G>A (p.Ser310Asn) rs2108804396
NM_003722.5(TP63):c.935G>T (p.Cys312Phe) rs1057520664
NM_003722.5(TP63):c.956G>C (p.Arg319Pro)

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