ClinVar Miner

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

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP
NM_003722.5(TP63):c.1009C>G (p.Arg337Gly) rs113993966
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.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.1054A>G (p.Arg352Gly) rs121908847
NM_003722.5(TP63):c.1350-75_1492del
NM_003722.5(TP63):c.1846del (p.Leu616fs) rs113993964
NM_003722.5(TP63):c.1963del (p.Arg655fs) rs797044843
NM_003722.5(TP63):c.325-18456A>C rs113993963
NM_003722.5(TP63):c.518G>A (p.Gly173Asp) rs113993965
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.740A>G (p.His247Arg) rs864621968
NM_003722.5(TP63):c.797G>A (p.Arg266Gln) rs121908849
NM_003722.5(TP63):c.953G>A (p.Arg318His) rs121908840
TP63, 1-BP INS, 1572A
TP63, 2-BP DEL, 1576TT
TP63, 2-BP DEL, 1743AA
TP63, ARG227PRO
TP63, PRO127LEU
TP63, VAL114MET

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