List of variants reported as pathogenic for Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
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_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.1052A>G (p.Asp351Gly)	rs121908844
NM_003722.5(TP63):c.1350-75_1492del	rs1577195893
NM_003722.5(TP63):c.1691dup (p.Tyr564Ter)	rs2108864810
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.797G>C (p.Arg266Pro)	rs121908849
NM_003722.5(TP63):c.953G>A (p.Arg318His)	rs121908840
NM_003722.5(TP63):c.955C>T (p.Arg319Cys)	rs121908839

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