ClinVar Miner

List of variants studied for EEC syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 147
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HGVS dbSNP gnomAD frequency
NM_003722.5(TP63):c.-58A>T rs28673064 0.45321
NM_003722.5(TP63):c.*2345C>T rs35592567 0.20615
NM_003722.5(TP63):c.*541G>A rs73199799 0.09298
NM_003722.5(TP63):c.*45C>T rs34057105 0.05395
NM_003722.5(TP63):c.*2216G>A rs35861864 0.05107
NM_003722.5(TP63):c.*435C>T rs78233713 0.04622
NM_003722.5(TP63):c.*638C>G rs6444406 0.02897
NM_003722.5(TP63):c.859C>T (p.Leu287=) rs33979049 0.01380
NM_003722.5(TP63):c.1652+14A>C rs150685395 0.01158
NM_003722.5(TP63):c.*1386T>C rs35785527 0.00979
NM_003722.5(TP63):c.*1620T>C rs34328757 0.00869
NM_003722.5(TP63):c.*1343T>C rs35659283 0.00640
NM_003722.5(TP63):c.*2139G>A rs35356690 0.00627
NM_003722.5(TP63):c.*2016A>G rs115660354 0.00499
NM_003722.5(TP63):c.*2002T>G rs35969817 0.00439
NM_003722.5(TP63):c.*854A>G rs187751631 0.00427
NM_003722.5(TP63):c.*1939T>G rs567626735 0.00308
NM_003722.5(TP63):c.1531C>A (p.Pro511Thr) rs148076109 0.00295
NM_003722.5(TP63):c.399C>T (p.Pro133=) rs145730343 0.00196
NM_003722.5(TP63):c.*2477T>G rs186295449 0.00187
NM_003722.5(TP63):c.1788G>A (p.Ala596=) rs148577576 0.00180
NM_003722.5(TP63):c.*2123C>T rs36064124 0.00159
NM_003722.5(TP63):c.*1181T>C rs565556454 0.00153
NM_003722.5(TP63):c.1587C>T (p.Leu529=) rs141847552 0.00082
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.*627T>C rs184452906 0.00043
NM_003722.5(TP63):c.*803G>A rs544230654 0.00041
NM_003722.5(TP63):c.498C>T (p.Pro166=) rs146612442 0.00041
NM_003722.5(TP63):c.678C>T (p.Arg226=) rs61732782 0.00034
NM_003722.5(TP63):c.*2625A>T rs35694511 0.00026
NM_003722.5(TP63):c.*966C>T rs539983621 0.00026
NM_003722.5(TP63):c.766+5G>A rs374425727 0.00022
NM_003722.5(TP63):c.*2426C>T rs568346565 0.00021
NM_003722.5(TP63):c.504C>T (p.Asn168=) rs141278696 0.00021
NM_003722.5(TP63):c.1599C>T (p.Ser533=) rs758093495 0.00018
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.699A>G (p.Lys233=) rs199727371 0.00011
NM_003722.5(TP63):c.1877T>G (p.Val626Gly) rs372318389 0.00010
NM_003722.5(TP63):c.*2318G>A rs199834330 0.00009
NM_003722.5(TP63):c.1121C>T (p.Thr374Met) rs199807776 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.*2009T>C rs886058236 0.00006
NM_003722.5(TP63):c.*379T>A rs192879052 0.00006
NM_003722.5(TP63):c.1095G>A (p.Ser365=) rs748609799 0.00006
NM_003722.5(TP63):c.1707G>A (p.Gly569=) rs202009057 0.00006
NM_003722.5(TP63):c.2021G>A (p.Arg674His) rs34713855 0.00006
NM_003722.5(TP63):c.387G>A (p.Ser129=) rs151335217 0.00006
NM_003722.5(TP63):c.*1472A>G rs375551286 0.00005
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.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.1374A>G (p.Ser458=) rs141794685 0.00004
NM_003722.5(TP63):c.1465G>A (p.Ala489Thr) rs138832017 0.00004
NM_003722.5(TP63):c.63-1G>C rs200607940 0.00004
NM_003722.5(TP63):c.688G>C (p.Val230Leu) rs201466089 0.00004
NM_003722.5(TP63):c.714G>A (p.Thr238=) rs773030906 0.00004
NM_003722.5(TP63):c.*1464G>T rs571277874 0.00003
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.900G>A (p.Thr300=) rs372807713 0.00003
NM_003722.5(TP63):c.992+8G>A rs192488893 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.1761G>A (p.Leu587=) rs573105911 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.-65C>T rs886058220 0.00001
NM_003722.5(TP63):c.1394C>T (p.Pro465Leu) rs775037738 0.00001
NM_003722.5(TP63):c.1404A>G (p.Lys468=) rs753627633 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.156A>G (p.Pro52=) rs780898702 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.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.290G>A (p.Arg97His) rs752080701 0.00001
NM_003722.5(TP63):c.303G>A (p.Ser101=) rs186864205 0.00001
NM_003722.5(TP63):c.409G>C (p.Asp137His) rs762935508 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.727C>T (p.Arg243Trp) rs121908835 0.00001
NM_003722.5(TP63):c.728G>A (p.Arg243Gln) rs121908836 0.00001
NM_003722.5(TP63):c.992+4A>C rs534974406 0.00001
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.*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.*280G>A rs1365557719
NM_003722.5(TP63):c.*295T>A rs886058226
NM_003722.5(TP63):c.*471A>T rs144018872
NM_003722.5(TP63):c.*736T>G rs1055700666
NM_003722.5(TP63):c.*759G>A rs1395004909
NM_003722.5(TP63):c.-38T>C rs1729451583
NM_003722.5(TP63):c.-3G>C rs770510830
NM_003722.5(TP63):c.-87C>T rs747090025
NM_003722.5(TP63):c.1012C>T (p.Arg338Cys) rs1404019220
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.1054A>G (p.Arg352Gly) rs121908847
NM_003722.5(TP63):c.1350-6315C>A rs1577182394
NM_003722.5(TP63):c.1350-75_1492del rs1577195893
NM_003722.5(TP63):c.1685T>C (p.Leu562Pro) rs774221257
NM_003722.5(TP63):c.1691dup (p.Tyr564Ter) rs2108864810
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.1880G>A (p.Ser627Asn) rs1293584292
NM_003722.5(TP63):c.192-9_192-8del rs794727498
NM_003722.5(TP63):c.1994T>G (p.Met665Arg) rs886058223
NM_003722.5(TP63):c.2017C>T (p.Gln673Ter)
NM_003722.5(TP63):c.20G>T (p.Arg7Leu) rs568702479
NM_003722.5(TP63):c.325-18543_325-18542insAGAG rs34201045
NM_003722.5(TP63):c.679G>A (p.Ala227Thr)
NM_003722.5(TP63):c.739C>T (p.His247Tyr) rs1553856553
NM_003722.5(TP63):c.740A>G (p.His247Arg) rs864621968
NM_003722.5(TP63):c.766+3A>G rs886058221
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.802G>A (p.Glu268Lys) rs2108801803
NM_003722.5(TP63):c.899C>A (p.Thr300Lys) rs886058222
NM_003722.5(TP63):c.925A>G (p.Asn309Asp)
NM_003722.5(TP63):c.953G>A (p.Arg318His) rs121908840
NM_003722.5(TP63):c.955C>T (p.Arg319Cys) rs121908839

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