ClinVar Miner

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

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Total variants: 13
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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.1063G>A (p.Asp355Asn) rs1553857889
NM_003722.5(TP63):c.1693T>G (p.Phe565Val)
NM_003722.5(TP63):c.1727T>C (p.Ile576Thr) rs1057517841
NM_003722.5(TP63):c.694A>G (p.Lys232Glu) rs1560274243
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.952C>T (p.Arg318Cys)
NM_003722.5(TP63):c.953G>A (p.Arg318His) rs121908840

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