ClinVar Miner

List of variants in gene TP63 reported as pathogenic by Invitae

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Gene type:
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Total variants: 31
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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.1007G>A (p.Gly336Asp) rs2108806204
NM_003722.5(TP63):c.1010G>A (p.Arg337Gln) rs113993967
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.1050A>T (p.Arg350Ser) rs2108806489
NM_003722.5(TP63):c.1063G>A (p.Asp355Asn) rs1553857889
NM_003722.5(TP63):c.1350-2A>G rs1560301690
NM_003722.5(TP63):c.1583dup (p.Leu529fs) rs2108861558
NM_003722.5(TP63):c.1670G>T (p.Gly557Val) rs2108864735
NM_003722.5(TP63):c.1693T>G (p.Phe565Val) rs1577206350
NM_003722.5(TP63):c.1695C>A (p.Phe565Leu) rs2108864831
NM_003722.5(TP63):c.1727T>C (p.Ile576Thr) rs1057517841
NM_003722.5(TP63):c.1735del (p.Tyr579fs)
NM_003722.5(TP63):c.1799G>A (p.Gly600Asp) rs1553863660
NM_003722.5(TP63):c.1861del (p.Ser621fs) rs1721306735
NM_003722.5(TP63):c.2014C>T (p.Gln672Ter)
NM_003722.5(TP63):c.328C>T (p.Gln110Ter) rs2108636995
NM_003722.5(TP63):c.517G>C (p.Gly173Arg) rs1057521750
NM_003722.5(TP63):c.518G>A (p.Gly173Asp) rs113993965
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.739C>T (p.His247Tyr) rs1553856553
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.932G>A (p.Ser311Asn)
NM_003722.5(TP63):c.952C>T (p.Arg318Cys) rs1205536026
NM_003722.5(TP63):c.953G>A (p.Arg318His) rs121908840
NM_003722.5(TP63):c.955C>T (p.Arg319Cys) rs121908839
NM_003722.5(TP63):c.956G>A (p.Arg319His) rs886039442

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