ClinVar Miner

List of variants in gene TP63 reported as uncertain significance for TP63-Related Spectrum Disorders

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 226
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003722.5(TP63):c.*1181T>C rs565556454 0.00153
NM_003722.5(TP63):c.*101C>T rs574438859 0.00077
NM_003722.5(TP63):c.*1959A>T rs527726173 0.00044
NM_003722.5(TP63):c.*803G>A rs544230654 0.00041
NM_003722.5(TP63):c.*966C>T rs539983621 0.00026
NM_003722.5(TP63):c.374A>C (p.Gln125Pro) rs982556895 0.00013
NM_003722.5(TP63):c.1877T>G (p.Val626Gly) rs372318389 0.00010
NM_003722.5(TP63):c.1121C>T (p.Thr374Met) rs199807776 0.00009
NM_003722.5(TP63):c.*2009T>C rs886058236 0.00006
NM_003722.5(TP63):c.*1472A>G rs375551286 0.00005
NM_003722.5(TP63):c.1530G>T (p.Met510Ile) rs200578530 0.00005
NM_003722.5(TP63):c.992+9C>T rs369838833 0.00005
NM_003722.5(TP63):c.*1702G>A rs886058232 0.00004
NM_003722.5(TP63):c.*2197C>A rs886058237 0.00004
NM_003722.5(TP63):c.1129C>T (p.Pro377Ser) rs576449010 0.00004
NM_003722.5(TP63):c.1465G>A (p.Ala489Thr) rs138832017 0.00004
NM_003722.5(TP63):c.1111G>A (p.Gly371Ser) rs556383197 0.00003
NM_003722.5(TP63):c.1497G>A (p.Met499Ile) rs267599730 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.50C>G (p.Pro17Arg) rs1408730457 0.00003
NM_003722.5(TP63):c.538T>G (p.Ser180Ala) rs1002291717 0.00003
NM_003722.5(TP63):c.*1377C>T rs764599956 0.00002
NM_003722.5(TP63):c.*1748A>G rs1037267655 0.00002
NM_003722.5(TP63):c.*221G>A rs886058224 0.00002
NM_003722.5(TP63):c.*820C>T rs1000155602 0.00002
NM_003722.5(TP63):c.110G>A (p.Arg37Gln) rs754361670 0.00002
NM_003722.5(TP63):c.1130C>T (p.Pro377Leu) rs148052765 0.00002
NM_003722.5(TP63):c.1400A>G (p.Asn467Ser) rs369453583 0.00002
NM_003722.5(TP63):c.1761G>A (p.Leu587=) rs573105911 0.00002
NM_003722.5(TP63):c.709G>A (p.Val237Ile) rs576751351 0.00002
NM_003722.5(TP63):c.*232T>C rs569527175 0.00001
NM_003722.5(TP63):c.*382A>G rs886058227 0.00001
NM_003722.5(TP63):c.*802G>A rs1202255721 0.00001
NM_003722.5(TP63):c.109C>T (p.Arg37Ter) rs147340040 0.00001
NM_003722.5(TP63):c.1129+5G>A rs1718038380 0.00001
NM_003722.5(TP63):c.1394C>T (p.Pro465Leu) rs775037738 0.00001
NM_003722.5(TP63):c.1523C>T (p.Thr508Ile) rs1487186623 0.00001
NM_003722.5(TP63):c.1528A>T (p.Met510Leu) rs769778189 0.00001
NM_003722.5(TP63):c.1553G>A (p.Gly518Glu) rs1478677560 0.00001
NM_003722.5(TP63):c.1573C>T (p.Leu525Phe) rs1323039634 0.00001
NM_003722.5(TP63):c.1612A>G (p.Thr538Ala) rs565094952 0.00001
NM_003722.5(TP63):c.1644C>T (p.Ser548=) rs763019843 0.00001
NM_003722.5(TP63):c.2003G>A (p.Arg668His) rs758317410 0.00001
NM_003722.5(TP63):c.254C>T (p.Ala85Val) rs750962649 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.409G>C (p.Asp137His) rs762935508 0.00001
NM_003722.5(TP63):c.411C>G (p.Asp137Glu) rs1401203192 0.00001
NM_003722.5(TP63):c.473C>T (p.Ala158Val) rs767384779 0.00001
NM_003722.5(TP63):c.61C>T (p.Arg21Cys) rs1452651956 0.00001
NM_003722.5(TP63):c.62G>A (p.Arg21His) rs766583971 0.00001
NM_003722.5(TP63):c.677G>A (p.Arg226His) rs193921145 0.00001
NM_003722.5(TP63):c.961A>G (p.Ile321Val) rs1033329267 0.00001
NC_000003.11:g.(?_189349285)_(189612311_?)dup
NC_000003.11:g.(?_189582001)_(189612291_?)del
NC_000003.12:g.(?_189864212)_(189873015_?)del
NM_003722.5(TP63):c.*1130_*1133del rs886058229
NM_003722.5(TP63):c.*1164A>G rs886058230
NM_003722.5(TP63):c.*1169T>C rs775038180
NM_003722.5(TP63):c.*1217T>C rs886058231
NM_003722.5(TP63):c.*1248C>T rs1721420029
NM_003722.5(TP63):c.*1437C>G rs370056499
NM_003722.5(TP63):c.*1846C>T rs886058234
NM_003722.5(TP63):c.*1947dup rs140654135
NM_003722.5(TP63):c.*2155G>A rs573673077
NM_003722.5(TP63):c.*2162C>A rs1407968564
NM_003722.5(TP63):c.*2205A>G rs886058238
NM_003722.5(TP63):c.*2273A>G rs886058239
NM_003722.5(TP63):c.*2357C>A rs1219703516
NM_003722.5(TP63):c.*235_*238del rs886058225
NM_003722.5(TP63):c.*2555dup rs772929136
NM_003722.5(TP63):c.*280G>A rs1365557719
NM_003722.5(TP63):c.*295T>A rs886058226
NM_003722.5(TP63):c.*519C>T rs886058228
NM_003722.5(TP63):c.*736T>G rs1055700666
NM_003722.5(TP63):c.*759G>A rs1395004909
NM_003722.5(TP63):c.1027C>G (p.Arg343Gly) rs886041251
NM_003722.5(TP63):c.1042C>G (p.Pro348Ala) rs1577147850
NM_003722.5(TP63):c.1043C>T (p.Pro348Leu) rs1560280393
NM_003722.5(TP63):c.1094C>T (p.Ser365Leu) rs147148566
NM_003722.5(TP63):c.1106A>G (p.Lys369Arg)
NM_003722.5(TP63):c.1110C>A (p.Asn370Lys)
NM_003722.5(TP63):c.1122G>A (p.Thr374=)
NM_003722.5(TP63):c.1126C>T (p.Arg376Cys)
NM_003722.5(TP63):c.1142A>G (p.Asn381Ser)
NM_003722.5(TP63):c.1166C>T (p.Ser389Phe)
NM_003722.5(TP63):c.1168A>G (p.Ile390Val)
NM_003722.5(TP63):c.119T>G (p.Met40Arg)
NM_003722.5(TP63):c.1204T>C (p.Tyr402His) rs926502142
NM_003722.5(TP63):c.1212+4G>C
NM_003722.5(TP63):c.1223G>A (p.Arg408His)
NM_003722.5(TP63):c.125A>T (p.Gln42Leu) rs2108795564
NM_003722.5(TP63):c.1270A>C (p.Met424Leu)
NM_003722.5(TP63):c.1273C>G (p.Gln425Glu)
NM_003722.5(TP63):c.1288C>A (p.His430Asn)
NM_003722.5(TP63):c.1294A>G (p.Ile432Val)
NM_003722.5(TP63):c.1295T>C (p.Ile432Thr)
NM_003722.5(TP63):c.1311ACAGCA[1] (p.Gln441_Gln442del)
NM_003722.5(TP63):c.1320G>T (p.Gln440His) rs2108818734
NM_003722.5(TP63):c.1322A>G (p.Gln441Arg)
NM_003722.5(TP63):c.1328A>C (p.His443Pro)
NM_003722.5(TP63):c.1334A>G (p.His445Arg) rs2108818787
NM_003722.5(TP63):c.1357A>G (p.Ile453Val)
NM_003722.5(TP63):c.1366C>T (p.Pro456Ser)
NM_003722.5(TP63):c.1369T>C (p.Ser457Pro)
NM_003722.5(TP63):c.1372T>C (p.Ser458Pro)
NM_003722.5(TP63):c.1388C>T (p.Ser463Phe)
NM_003722.5(TP63):c.139A>G (p.Asn47Asp)
NM_003722.5(TP63):c.1416G>T (p.Met472Ile) rs755205138
NM_003722.5(TP63):c.142G>A (p.Glu48Lys)
NM_003722.5(TP63):c.1436G>A (p.Ser479Asn)
NM_003722.5(TP63):c.1441C>T (p.Leu481Phe)
NM_003722.5(TP63):c.1445T>C (p.Ile482Thr)
NM_003722.5(TP63):c.1449C>A (p.Asn483Lys) rs2108854448
NM_003722.5(TP63):c.1450C>A (p.Pro484Thr)
NM_003722.5(TP63):c.1454A>G (p.Gln485Arg)
NM_003722.5(TP63):c.1464C>G (p.Asn488Lys) rs756653133
NM_003722.5(TP63):c.1475C>T (p.Pro492Leu) rs2108854518
NM_003722.5(TP63):c.1477A>G (p.Thr493Ala)
NM_003722.5(TP63):c.1481C>T (p.Thr494Ile)
NM_003722.5(TP63):c.1483A>G (p.Ile495Val)
NM_003722.5(TP63):c.1492G>A (p.Gly498Ser) rs2108854569
NM_003722.5(TP63):c.1507+6_1507+7del rs1239031252
NM_003722.5(TP63):c.1518G>A (p.Met506Ile)
NM_003722.5(TP63):c.1528A>C (p.Met510Leu)
NM_003722.5(TP63):c.1537G>A (p.Ala513Thr) rs1196701463
NM_003722.5(TP63):c.1550A>G (p.Asn517Ser) rs2108861443
NM_003722.5(TP63):c.1557C>T (p.Leu519=)
NM_003722.5(TP63):c.1558A>C (p.Ser520Arg)
NM_003722.5(TP63):c.1570G>A (p.Ala524Thr) rs1403304957
NM_003722.5(TP63):c.1574T>A (p.Leu525His)
NM_003722.5(TP63):c.1583C>A (p.Pro528Gln) rs761041436
NM_003722.5(TP63):c.1583C>T (p.Pro528Leu)
NM_003722.5(TP63):c.1594C>G (p.Pro532Ala)
NM_003722.5(TP63):c.159G>C (p.Glu53Asp)
NM_003722.5(TP63):c.1607A>T (p.His536Leu)
NM_003722.5(TP63):c.1655T>G (p.Phe552Cys) rs886039443
NM_003722.5(TP63):c.1661C>T (p.Ala554Val)
NM_003722.5(TP63):c.1711A>C (p.Thr571Pro) rs1720945373
NM_003722.5(TP63):c.1717A>G (p.Ile573Val)
NM_003722.5(TP63):c.1746+5G>A rs1553863040
NM_003722.5(TP63):c.1748A>T (p.Asp583Val) rs1577213305
NM_003722.5(TP63):c.1781G>A (p.Arg594Gln)
NM_003722.5(TP63):c.1813C>T (p.Arg605Trp)
NM_003722.5(TP63):c.1831TCC[1] (p.Ser612del) rs1294809942
NM_003722.5(TP63):c.1834T>G (p.Ser612Ala) rs1721303299
NM_003722.5(TP63):c.1843C>T (p.His615Tyr)
NM_003722.5(TP63):c.1846C>T (p.Leu616Phe)
NM_003722.5(TP63):c.1846del (p.Leu616fs) rs113993964
NM_003722.5(TP63):c.1851_1852delinsTT (p.Arg618Trp)
NM_003722.5(TP63):c.1852C>T (p.Arg618Trp)
NM_003722.5(TP63):c.1861A>G (p.Ser621Gly)
NM_003722.5(TP63):c.1874C>T (p.Thr625Ile)
NM_003722.5(TP63):c.1880G>A (p.Ser627Asn) rs1293584292
NM_003722.5(TP63):c.1886G>C (p.Gly629Ala)
NM_003722.5(TP63):c.1888T>C (p.Ser630Pro) rs2108873954
NM_003722.5(TP63):c.1892G>A (p.Ser631Asn) rs1445213116
NM_003722.5(TP63):c.1898C>G (p.Thr633Ser)
NM_003722.5(TP63):c.1900C>T (p.Arg634Trp)
NM_003722.5(TP63):c.1901G>A (p.Arg634Gln)
NM_003722.5(TP63):c.1903G>A (p.Gly635Ser)
NM_003722.5(TP63):c.1910G>A (p.Arg637His)
NM_003722.5(TP63):c.1910G>T (p.Arg637Leu) rs770997588
NM_003722.5(TP63):c.1912G>A (p.Val638Ile)
NM_003722.5(TP63):c.1930T>C (p.Phe644Leu)
NM_003722.5(TP63):c.1940G>A (p.Arg647His)
NM_003722.5(TP63):c.194C>T (p.Pro65Leu)
NM_003722.5(TP63):c.1964G>A (p.Arg655Gln)
NM_003722.5(TP63):c.1970A>G (p.Glu657Gly)
NM_003722.5(TP63):c.1985A>G (p.Asn662Ser)
NM_003722.5(TP63):c.1994T>G (p.Met665Arg) rs886058223
NM_003722.5(TP63):c.19C>T (p.Arg7Trp)
NM_003722.5(TP63):c.2005C>T (p.Arg669Cys)
NM_003722.5(TP63):c.2040G>C (p.Glu680Asp)
NM_003722.5(TP63):c.248A>T (p.Asp83Val)
NM_003722.5(TP63):c.26C>G (p.Ala9Gly)
NM_003722.5(TP63):c.279G>A (p.Met93Ile)
NM_003722.5(TP63):c.286A>G (p.Ile96Val) rs372543100
NM_003722.5(TP63):c.302C>T (p.Ser101Leu)
NM_003722.5(TP63):c.313G>A (p.Asp105Asn)
NM_003722.5(TP63):c.35A>C (p.Gln12Pro)
NM_003722.5(TP63):c.362A>G (p.Asp121Gly)
NM_003722.5(TP63):c.366G>T (p.Gln122His)
NM_003722.5(TP63):c.367C>G (p.Gln123Glu)
NM_003722.5(TP63):c.369G>C (p.Gln123His)
NM_003722.5(TP63):c.379G>A (p.Gly127Ser)
NM_003722.5(TP63):c.406A>G (p.Thr136Ala)
NM_003722.5(TP63):c.416C>T (p.Ala139Val)
NM_003722.5(TP63):c.434C>A (p.Ala145Glu)
NM_003722.5(TP63):c.440C>G (p.Ser147Trp)
NM_003722.5(TP63):c.468C>A (p.Phe156Leu)
NM_003722.5(TP63):c.475C>G (p.Leu159Val)
NM_003722.5(TP63):c.47A>G (p.Asp16Gly)
NM_003722.5(TP63):c.487C>T (p.Pro163Ser) rs1560204733
NM_003722.5(TP63):c.566C>T (p.Ser189Leu) rs866938979
NM_003722.5(TP63):c.571A>T (p.Thr191Ser) rs2108638610
NM_003722.5(TP63):c.578C>G (p.Thr193Arg) rs1727180191
NM_003722.5(TP63):c.608G>A (p.Cys203Tyr)
NM_003722.5(TP63):c.643G>T (p.Val215Leu)
NM_003722.5(TP63):c.645G>A (p.Val215=)
NM_003722.5(TP63):c.656C>T (p.Pro219Leu)
NM_003722.5(TP63):c.670G>C (p.Val224Leu) rs757669482
NM_003722.5(TP63):c.673A>T (p.Ile225Phe) rs550991181
NM_003722.5(TP63):c.674T>C (p.Ile225Thr)
NM_003722.5(TP63):c.679G>A (p.Ala227Thr)
NM_003722.5(TP63):c.67G>A (p.Val23Ile)
NM_003722.5(TP63):c.713C>T (p.Thr238Met)
NM_003722.5(TP63):c.725A>G (p.Lys242Arg)
NM_003722.5(TP63):c.72A>T (p.Glu24Asp)
NM_003722.5(TP63):c.730T>C (p.Cys244Arg)
NM_003722.5(TP63):c.736A>G (p.Asn246Asp)
NM_003722.5(TP63):c.763G>A (p.Glu255Lys)
NM_003722.5(TP63):c.766+3A>G rs886058221
NM_003722.5(TP63):c.796C>T (p.Arg266Ter) rs747009931
NM_003722.5(TP63):c.799G>A (p.Val267Ile) rs768752805
NM_003722.5(TP63):c.818C>T (p.Ala273Val)
NM_003722.5(TP63):c.824A>T (p.Tyr275Phe)
NM_003722.5(TP63):c.847A>G (p.Arg283Gly) rs1717775898
NM_003722.5(TP63):c.865C>T (p.Pro289Ser)
NM_003722.5(TP63):c.874C>G (p.Pro292Ala)
NM_003722.5(TP63):c.899C>A (p.Thr300Lys) rs886058222
NM_003722.5(TP63):c.915T>A (p.Asn305Lys)
NM_003722.5(TP63):c.927CAG[1] (p.Ser311del) rs1577145611
NM_003722.5(TP63):c.974T>C (p.Val325Ala)
NM_003722.5(TP63):c.992+14G>T

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.