ClinVar Miner

List of variants in gene TP63 studied for ADULT syndrome; Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome; Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3; Limb-mammary syndrome; Rapp-Hodgkin syndrome; Split hand-foot malformation 4; Orofacial cleft 8; Premature ovarian failure 21

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Gene type:
ClinVar version:
Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_003722.5(TP63):c.1480A>G (p.Thr494Ala) rs200203171 0.00014
NM_003722.5(TP63):c.1367C>T (p.Pro456Leu) rs201479097 0.00009
NM_003722.5(TP63):c.84T>G (p.His28Gln) rs370716448 0.00009
NM_003722.5(TP63):c.1807G>C (p.Asp603His) rs767906723 0.00003
NM_003722.5(TP63):c.1528A>T (p.Met510Leu) rs769778189 0.00001
NM_003722.5(TP63):c.210G>C (p.Gln70His) rs201631366 0.00001
NM_003722.5(TP63):c.289C>T (p.Arg97Cys) rs121908848 0.00001
NM_003722.5(TP63):c.290G>A (p.Arg97His) rs752080701 0.00001
NM_003722.5(TP63):c.727C>T (p.Arg243Trp) rs121908835 0.00001
NM_003722.5(TP63):c.1028G>A (p.Arg343Gln) rs121908841
NM_003722.5(TP63):c.1129+1G>A
NM_003722.5(TP63):c.1142A>G (p.Asn381Ser)
NM_003722.5(TP63):c.1160T>A (p.Met387Lys)
NM_003722.5(TP63):c.1223G>A (p.Arg408His)
NM_003722.5(TP63):c.122C>T (p.Ser41Phe)
NM_003722.5(TP63):c.131C>A (p.Thr44Lys)
NM_003722.5(TP63):c.1350-6263G>A
NM_003722.5(TP63):c.1350-7T>A
NM_003722.5(TP63):c.1362G>T (p.Gln454His)
NM_003722.5(TP63):c.1481C>T (p.Thr494Ile)
NM_003722.5(TP63):c.1507+6_1507+7del rs1239031252
NM_003722.5(TP63):c.1518G>A (p.Met506Ile)
NM_003722.5(TP63):c.1525C>T (p.His509Tyr)
NM_003722.5(TP63):c.1528A>G (p.Met510Val)
NM_003722.5(TP63):c.1534A>G (p.Met512Val)
NM_003722.5(TP63):c.1537G>C (p.Ala513Pro) rs1196701463
NM_003722.5(TP63):c.1565C>T (p.Thr522Ile)
NM_003722.5(TP63):c.1583C>A (p.Pro528Gln) rs761041436
NM_003722.5(TP63):c.1594C>G (p.Pro532Ala)
NM_003722.5(TP63):c.1615C>T (p.Pro539Ser)
NM_003722.5(TP63):c.161T>C (p.Val54Ala)
NM_003722.5(TP63):c.1661C>T (p.Ala554Val)
NM_003722.5(TP63):c.1797G>A (p.Lys599=)
NM_003722.5(TP63):c.1835C>A (p.Ser612Tyr)
NM_003722.5(TP63):c.1847T>G (p.Leu616Arg)
NM_003722.5(TP63):c.1861A>G (p.Ser621Gly)
NM_003722.5(TP63):c.19C>T (p.Arg7Trp)
NM_003722.5(TP63):c.2009A>G (p.Asn670Ser)
NM_003722.5(TP63):c.2036G>A (p.Gly679Glu)
NM_003722.5(TP63):c.2040G>C (p.Glu680Asp)
NM_003722.5(TP63):c.325-18411A>G
NM_003722.5(TP63):c.345dup (p.Leu116fs)
NM_003722.5(TP63):c.362A>G (p.Asp121Gly)
NM_003722.5(TP63):c.475C>T (p.Leu159Phe) rs752603187
NM_003722.5(TP63):c.543C>G (p.Phe181Leu)
NM_003722.5(TP63):c.609C>T (p.Cys203=)
NM_003722.5(TP63):c.809A>G (p.Asn270Ser)

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