List of variants in gene TP63 reported as pathogenic by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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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_001114980.2(TP63):c.26del (p.Gln9fs)	rs1553840705
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.1039T>C (p.Cys347Arg)
NM_003722.5(TP63):c.1040G>T (p.Cys347Phe)	rs1064793282
NM_003722.5(TP63):c.1052A>G (p.Asp351Gly)	rs121908844
NM_003722.5(TP63):c.1727T>C (p.Ile576Thr)	rs1057517841
NM_003722.5(TP63):c.518G>T (p.Gly173Val)	rs113993965
NM_003722.5(TP63):c.547C>T (p.Gln183Ter)	rs1057520750
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.935G>A (p.Cys312Tyr)	rs1057520664
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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