ClinVar Miner

List of variants in gene TP63 studied for hereditary epidermal appendage anomaly

Included ClinVar conditions (216):
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Gene type:
ClinVar version:
Total variants: 107
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HGVS dbSNP gnomAD frequency
NM_003722.5(TP63):c.1531C>A (p.Pro511Thr) rs148076109 0.00295
NM_003722.5(TP63):c.1788G>A (p.Ala596=) rs148577576 0.00180
NM_003722.5(TP63):c.498C>T (p.Pro166=) rs146612442 0.00041
NM_003722.5(TP63):c.1599C>T (p.Ser533=) rs758093495 0.00018
NM_003722.5(TP63):c.1480A>G (p.Thr494Ala) rs200203171 0.00014
NM_003722.5(TP63):c.1575C>T (p.Leu525=) rs147389337 0.00011
NM_003722.5(TP63):c.1814G>A (p.Arg605Gln) rs142981128 0.00011
NM_003722.5(TP63):c.1121C>T (p.Thr374Met) rs199807776 0.00009
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.882+19A>T rs200703504 0.00008
NM_003722.5(TP63):c.1095G>A (p.Ser365=) rs748609799 0.00006
NM_003722.5(TP63):c.2021G>A (p.Arg674His) rs34713855 0.00006
NM_003722.5(TP63):c.1626G>A (p.Pro542=) rs370637253 0.00005
NM_003722.5(TP63):c.654A>G (p.Pro218=) rs764672477 0.00005
NM_003722.5(TP63):c.714G>A (p.Thr238=) rs773030906 0.00004
NM_003722.5(TP63):c.1352C>G (p.Thr451Ser) rs747305746 0.00003
NM_003722.5(TP63):c.1697C>T (p.Thr566Met) rs745687224 0.00003
NM_003722.5(TP63):c.1807G>C (p.Asp603His) rs767906723 0.00003
NM_003722.5(TP63):c.366G>A (p.Gln122=) rs201774402 0.00003
NM_003722.5(TP63):c.402T>C (p.Tyr134=) rs201239102 0.00003
NM_003722.5(TP63):c.50C>G (p.Pro17Arg) rs1408730457 0.00003
NM_003722.5(TP63):c.992+8G>A rs192488893 0.00003
NM_003722.5(TP63):c.110G>A (p.Arg37Gln) rs754361670 0.00002
NM_003722.5(TP63):c.1394C>T (p.Pro465Leu) rs775037738 0.00001
NM_003722.5(TP63):c.1528A>T (p.Met510Leu) rs769778189 0.00001
NM_003722.5(TP63):c.156A>G (p.Pro52=) rs780898702 0.00001
NM_003722.5(TP63):c.1612A>G (p.Thr538Ala) rs565094952 0.00001
NM_003722.5(TP63):c.1825G>A (p.Glu609Lys) rs142762485 0.00001
NM_003722.5(TP63):c.2003G>A (p.Arg668His) rs758317410 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.62G>A (p.Arg21His) rs766583971 0.00001
NM_003722.5(TP63):c.727C>T (p.Arg243Trp) rs121908835 0.00001
NM_003722.5(TP63):c.992+4A>C rs534974406 0.00001
NM_001114980.2(TP63):c.16A>C (p.Asn6His) rs113993963
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.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.1169T>A (p.Ile390Asn) rs1718128235
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.1570G>A (p.Ala524Thr) rs1403304957
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.1646T>A (p.Ile549Asn)
NM_003722.5(TP63):c.1646T>C (p.Ile549Thr) rs121908845
NM_003722.5(TP63):c.1659A>T (p.Leu553Phe) rs121908842
NM_003722.5(TP63):c.1661C>T (p.Ala554Val)
NM_003722.5(TP63):c.1670G>T (p.Gly557Val) rs2108864735
NM_003722.5(TP63):c.1681T>G (p.Cys561Gly) rs121908843
NM_003722.5(TP63):c.1693_1694del (p.Phe565fs) rs2108864814
NM_003722.5(TP63):c.1724A>G (p.Gln575Arg)
NM_003722.5(TP63):c.1738T>C (p.Ser580Pro) rs121908846
NM_003722.5(TP63):c.1790T>C (p.Ile597Thr) rs1577213466
NM_003722.5(TP63):c.1797G>A (p.Lys599=)
NM_003722.5(TP63):c.1802T>C (p.Ile601Thr)
NM_003722.5(TP63):c.1827del (p.Glu609fs) rs2108873431
NM_003722.5(TP63):c.1831TCC[1] (p.Ser612del) rs1294809942
NM_003722.5(TP63):c.1833_1843dup (p.His615fs)
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.1861del (p.Ser621fs) rs1721306735
NM_003722.5(TP63):c.1900del (p.Arg634fs) rs2108874029
NM_003722.5(TP63):c.192-9_192-8del rs794727498
NM_003722.5(TP63):c.1927C>T (p.Arg643Ter) rs1560311554
NM_003722.5(TP63):c.1963C>T (p.Arg655Ter)
NM_003722.5(TP63):c.1976del (p.Asn659fs) rs2108874645
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.20G>T (p.Arg7Leu) rs568702479
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.740A>G (p.His247Arg) rs864621968
NM_003722.5(TP63):c.797G>A (p.Arg266Gln) rs121908849
NM_003722.5(TP63):c.799G>A (p.Val267Ile) rs768752805
NM_003722.5(TP63):c.802G>A (p.Glu268Lys) rs2108801803
NM_003722.5(TP63):c.809A>G (p.Asn270Ser)
NM_003722.5(TP63):c.858dup (p.Leu287fs) rs2108801923
NM_003722.5(TP63):c.953G>A (p.Arg318His) rs121908840
P127L
TP63, VAL114MET

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