ClinVar Miner

List of variants in gene TP63 reported as pathogenic for Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3

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Total variants: 12
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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.1052A>G (p.Asp351Gly) rs121908844
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.740A>G (p.His247Arg) rs864621968
NM_003722.5(TP63):c.797G>A (p.Arg266Gln) rs121908849
NM_003722.5(TP63):c.953G>A (p.Arg318His) rs121908840
TP63, 1-BP INS, 1572A

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