ClinVar Miner

List of variants in gene TP63 reported as pathogenic for EEC syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
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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