ClinVar Miner

List of variants in gene TNPO3 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 189
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_012470.4(TNPO3):c.2431-115T>C rs1691779 0.99053
NM_012470.4(TNPO3):c.1359-73G>A rs1154329 0.85345
NM_012470.3(TNPO3):c.-455T>C rs2242029 0.78658
NM_012470.4(TNPO3):c.2712-218A>C rs10236569 0.63638
NM_012470.4(TNPO3):c.395+206G>A rs3847099 0.63606
NM_012470.4(TNPO3):c.322-167A>G rs3857852 0.63602
NM_012470.4(TNPO3):c.396-246_396-245insA rs35451473 0.63565
NM_012470.4(TNPO3):c.696+213G>A rs3807302 0.63287
NM_012470.4(TNPO3):c.1921-238A>T rs2272347 0.59396
NM_012470.4(TNPO3):c.553-300A>G rs10954215 0.59377
NM_012470.4(TNPO3):c.1359-159A>G rs6969930 0.59075
NM_012470.4(TNPO3):c.1011+190G>A rs4731536 0.59052
NM_012470.4(TNPO3):c.1011+295T>C rs7807018 0.57618
NM_012470.4(TNPO3):c.1011+149T>A rs4728144 0.52670
NM_012470.4(TNPO3):c.2661C>T (p.Ala887=) rs8043 0.49045
NM_012470.4(TNPO3):c.552+193A>T rs2305325 0.36818
NM_012470.4(TNPO3):c.759C>G (p.Leu253=) rs2305324 0.35727
NM_012470.4(TNPO3):c.553-79T>G rs11768572 0.28208
NM_012470.4(TNPO3):c.1266+139A>G rs2305323 0.25224
NM_012470.4(TNPO3):c.1498+22T>C rs41274158 0.12377
NM_012470.4(TNPO3):c.2179-50T>C rs2293492 0.09420
NM_012470.4(TNPO3):c.2062-12T>G rs112438598 0.06913
NM_012470.4(TNPO3):c.1691-114T>A rs7788977 0.06900
NM_012470.4(TNPO3):c.1690+226T>C rs2290231 0.04255
NM_012470.4(TNPO3):c.2358G>A (p.Leu786=) rs11538884 0.04242
NM_012470.4(TNPO3):c.2205C>T (p.Leu735=) rs2293493 0.03941
NM_012470.4(TNPO3):c.321+16C>T rs17424179 0.02517
NM_012470.4(TNPO3):c.1859+242C>G rs73463042 0.02314
NM_012470.4(TNPO3):c.2599-78G>A rs73463020 0.02308
NM_012470.4(TNPO3):c.2154G>T (p.Arg718=) rs35060568 0.01445
NM_012470.4(TNPO3):c.1012-271A>G rs28607116 0.01444
NM_012470.4(TNPO3):c.2061+179C>T rs144953867 0.01361
NM_012470.4(TNPO3):c.120+184C>G rs10266077 0.01201
NM_012470.4(TNPO3):c.1921-205A>G rs141992296 0.01153
NM_012470.4(TNPO3):c.2430+154A>G rs10276681 0.01109
NM_012470.4(TNPO3):c.553-116T>C rs1495462 0.01096
NM_012470.4(TNPO3):c.1012-326C>T rs144370208 0.00786
NM_012470.4(TNPO3):c.697-249C>T rs111226894 0.00775
NM_012470.4(TNPO3):c.2711+287G>A rs115663147 0.00759
NM_012470.4(TNPO3):c.395+29G>A rs138284925 0.00754
NM_012470.4(TNPO3):c.1011+148T>A rs182945121 0.00749
NM_012470.4(TNPO3):c.2599-268C>T rs144859720 0.00710
NM_012470.4(TNPO3):c.2712-267A>G rs115442046 0.00594
NM_012470.4(TNPO3):c.1011+56T>C rs7807327 0.00580
NM_012470.4(TNPO3):c.2061+188G>A rs141449280 0.00580
NM_012470.4(TNPO3):c.321+31T>C rs116830152 0.00540
NM_012470.4(TNPO3):c.2273+133A>G rs1874331 0.00532
NM_012470.4(TNPO3):c.2598+245A>G rs143326920 0.00531
NC_000007.14:g.129055497T>C rs114666055 0.00493
NM_012470.4(TNPO3):c.1011+322A>C rs79089815 0.00466
NM_012470.4(TNPO3):c.2062-34G>A rs75544053 0.00440
NM_012470.4(TNPO3):c.121-30T>G rs147557723 0.00423
NM_012470.4(TNPO3):c.2061+75T>C rs138805125 0.00423
NM_012470.4(TNPO3):c.321+27A>G rs149868719 0.00341
NM_012470.4(TNPO3):c.2178+26C>T rs148454273 0.00340
NM_012470.4(TNPO3):c.2652C>T (p.Thr884=) rs149434536 0.00140
NM_012470.4(TNPO3):c.2280T>C (p.Ile760=) rs142359170 0.00093
NM_012470.4(TNPO3):c.2741C>T (p.Ala914Val) rs61756249 0.00061
NM_012470.4(TNPO3):c.120+9C>A rs372906002 0.00048
NM_012470.4(TNPO3):c.2061+26G>A rs185942627 0.00048
NM_012470.4(TNPO3):c.582T>C (p.Asp194=) rs148885407 0.00041
NM_012470.4(TNPO3):c.275C>T (p.Thr92Ile) rs61756250 0.00037
NM_012470.4(TNPO3):c.2079C>T (p.His693=) rs199826657 0.00014
NM_012470.4(TNPO3):c.2625C>T (p.Ser875=) rs201210726 0.00014
NM_012470.4(TNPO3):c.857G>A (p.Arg286His) rs140709222 0.00013
NM_012470.4(TNPO3):c.906A>G (p.Leu302=) rs141881594 0.00009
NM_012470.4(TNPO3):c.1122C>T (p.His374=) rs781217193 0.00008
NM_012470.4(TNPO3):c.318G>A (p.Thr106=) rs140754153 0.00007
NM_012470.4(TNPO3):c.1636C>T (p.Arg546Cys) rs148210365 0.00006
NM_012470.4(TNPO3):c.2599-6A>G rs374776250 0.00006
NM_012470.4(TNPO3):c.965G>A (p.Arg322Gln) rs144794750 0.00006
NM_012470.4(TNPO3):c.1179T>C (p.Thr393=) rs769500215 0.00005
NM_012470.4(TNPO3):c.1367A>G (p.Asn456Ser) rs371704560 0.00005
NM_012470.4(TNPO3):c.234C>T (p.Leu78=) rs142268279 0.00004
NM_012470.4(TNPO3):c.2662G>A (p.Val888Ile) rs765613943 0.00004
NM_012470.4(TNPO3):c.1090A>C (p.Ile364Leu) rs983345752 0.00003
NM_012470.4(TNPO3):c.1158+17A>G rs764995047 0.00003
NM_012470.4(TNPO3):c.2326A>G (p.Ile776Val) rs368873021 0.00003
NM_012470.4(TNPO3):c.2452C>T (p.Arg818Trp) rs570772653 0.00003
NM_012470.4(TNPO3):c.574G>C (p.Gly192Arg) rs770701668 0.00003
NM_012470.4(TNPO3):c.1453G>A (p.Val485Ile) rs751986019 0.00002
NM_012470.4(TNPO3):c.1474G>A (p.Val492Ile) rs758997411 0.00002
NM_012470.4(TNPO3):c.1851G>T (p.Val617=) rs775746067 0.00002
NM_012470.4(TNPO3):c.2306G>A (p.Arg769Gln) rs772598470 0.00002
NM_012470.4(TNPO3):c.2542del (p.Tyr848fs) rs773574448 0.00002
NM_012470.4(TNPO3):c.2667A>G (p.Thr889=) rs760128958 0.00002
NM_012470.4(TNPO3):c.1042C>T (p.Arg348Ter) rs1801458570 0.00001
NM_012470.4(TNPO3):c.1359-5C>T rs757673014 0.00001
NM_012470.4(TNPO3):c.1365C>G (p.Asn455Lys) rs1177744213 0.00001
NM_012470.4(TNPO3):c.1403G>A (p.Arg468His) rs534068313 0.00001
NM_012470.4(TNPO3):c.1424C>T (p.Thr475Met) rs200236830 0.00001
NM_012470.4(TNPO3):c.1481G>A (p.Arg494Gln) rs1429759493 0.00001
NM_012470.4(TNPO3):c.1549T>G (p.Ser517Ala) rs886043008 0.00001
NM_012470.4(TNPO3):c.1562A>G (p.Lys521Arg) rs755030982 0.00001
NM_012470.4(TNPO3):c.160C>T (p.Arg54Trp) rs758601463 0.00001
NM_012470.4(TNPO3):c.1645G>A (p.Asp549Asn) rs1004889227 0.00001
NM_012470.4(TNPO3):c.1810A>G (p.Ile604Val) rs886043402 0.00001
NM_012470.4(TNPO3):c.1818A>T (p.Ser606=) rs1006923306 0.00001
NM_012470.4(TNPO3):c.1841G>A (p.Arg614His) rs781272417 0.00001
NM_012470.4(TNPO3):c.1866C>T (p.Thr622=) rs1249371999 0.00001
NM_012470.4(TNPO3):c.189T>C (p.Ala63=) rs755216120 0.00001
NM_012470.4(TNPO3):c.1961C>T (p.Ala654Val) rs760634627 0.00001
NM_012470.4(TNPO3):c.2058A>G (p.Thr686=) rs1585330590 0.00001
NM_012470.4(TNPO3):c.2062-8C>G rs1486585360 0.00001
NM_012470.4(TNPO3):c.2333A>G (p.Gln778Arg) rs1339666918 0.00001
NM_012470.4(TNPO3):c.2572T>C (p.Trp858Arg) rs886044413 0.00001
NM_012470.4(TNPO3):c.2611T>C (p.Trp871Arg) rs886044218 0.00001
NM_012470.4(TNPO3):c.2653G>A (p.Val885Met) rs545012511 0.00001
NM_012470.4(TNPO3):c.2718G>A (p.Glu906=) rs751327499 0.00001
NM_012470.4(TNPO3):c.282C>A (p.Ile94=) rs1344567292 0.00001
NM_012470.4(TNPO3):c.534T>C (p.Ser178=) rs770150722 0.00001
NM_012470.4(TNPO3):c.550T>C (p.Leu184=) rs757199066 0.00001
NM_012470.4(TNPO3):c.704A>T (p.Asp235Val) rs886043855 0.00001
NM_012470.4(TNPO3):c.714G>A (p.Ser238=) rs1338377207 0.00001
NM_012470.4(TNPO3):c.747A>G (p.Val249=) rs1326573780 0.00001
NM_012470.4(TNPO3):c.804A>G (p.Gln268=) rs886044161 0.00001
NM_012470.4(TNPO3):c.934T>A (p.Cys312Ser) rs148527094 0.00001
NM_012470.4(TNPO3):c.964C>T (p.Arg322Ter) rs751304152 0.00001
NM_012470.4(TNPO3):c.975G>C (p.Glu325Asp) rs1415790123 0.00001
NM_012470.4(TNPO3):c.1004A>G (p.Gln335Arg) rs2150377279
NM_012470.4(TNPO3):c.1038del (p.Trp346fs)
NM_012470.4(TNPO3):c.1090A>G (p.Ile364Val) rs983345752
NM_012470.4(TNPO3):c.1100C>A (p.Ala367Asp)
NM_012470.4(TNPO3):c.1104C>T (p.Tyr368=) rs1554439189
NM_012470.4(TNPO3):c.1120C>T (p.His374Tyr)
NM_012470.4(TNPO3):c.1185C>A (p.Asp395Glu) rs886043107
NM_012470.4(TNPO3):c.130T>C (p.Trp44Arg) rs2150437358
NM_012470.4(TNPO3):c.1372A>G (p.Thr458Ala) rs1178751871
NM_012470.4(TNPO3):c.1409C>T (p.Pro470Leu) rs137891112
NM_012470.4(TNPO3):c.1421A>G (p.His474Arg) rs1554438219
NM_012470.4(TNPO3):c.1433G>A (p.Arg478Gln)
NM_012470.4(TNPO3):c.1531T>C (p.Cys511Arg) rs886044027
NM_012470.4(TNPO3):c.1543del (p.Leu515fs) rs2150339586
NM_012470.4(TNPO3):c.155A>C (p.Gln52Pro)
NM_012470.4(TNPO3):c.1607A>C (p.Gln536Pro) rs886043969
NM_012470.4(TNPO3):c.1750del (p.Leu584fs)
NM_012470.4(TNPO3):c.1782G>A (p.Lys594=) rs886044359
NM_012470.4(TNPO3):c.1783-303AAT[3] rs199516284
NM_012470.4(TNPO3):c.1824C>T (p.Pro608=) rs1563092740
NM_012470.4(TNPO3):c.1846G>C (p.Ala616Pro)
NM_012470.4(TNPO3):c.1859+209dup rs35552227
NM_012470.4(TNPO3):c.1920+1G>A rs1799463371
NM_012470.4(TNPO3):c.1958G>T (p.Arg653Leu)
NM_012470.4(TNPO3):c.1999C>T (p.Arg667Cys) rs2129003608
NM_012470.4(TNPO3):c.2040G>C (p.Leu680=)
NM_012470.4(TNPO3):c.2061+18dup rs145442081
NM_012470.4(TNPO3):c.2070T>C (p.Asn690=) rs560128689
NM_012470.4(TNPO3):c.2141A>T (p.Glu714Val) rs886043849
NM_012470.4(TNPO3):c.2178+156_2178+158del rs3830639
NM_012470.4(TNPO3):c.2180C>T (p.Ala727Val)
NM_012470.4(TNPO3):c.2193del (p.Thr732fs)
NM_012470.4(TNPO3):c.2212C>G (p.Gln738Glu) rs1798907371
NM_012470.4(TNPO3):c.2261G>A (p.Arg754Gln)
NM_012470.4(TNPO3):c.2273+221_2273+230del rs11278086
NM_012470.4(TNPO3):c.2274-10del rs539653012
NM_012470.4(TNPO3):c.2274-5A>G rs567711266
NM_012470.4(TNPO3):c.2314del (p.Val772fs) rs2128995361
NM_012470.4(TNPO3):c.2351C>T (p.Thr784Ile) rs1131691750
NM_012470.4(TNPO3):c.2409T>G (p.Ile803Met)
NM_012470.4(TNPO3):c.2430+199dup rs566362874
NM_012470.4(TNPO3):c.2431-2A>C rs886043142
NM_012470.4(TNPO3):c.247C>G (p.His83Asp)
NM_012470.4(TNPO3):c.2489G>A (p.Gly830Glu)
NM_012470.4(TNPO3):c.2520C>G (p.Thr840=) rs886042837
NM_012470.4(TNPO3):c.2545A>T (p.Thr849Ser) rs566110160
NM_012470.4(TNPO3):c.2603T>C (p.Phe868Ser) rs1798023288
NM_012470.4(TNPO3):c.2655G>A (p.Val885=) rs548382251
NM_012470.4(TNPO3):c.2676C>G (p.His892Gln) rs1064796299
NM_012470.4(TNPO3):c.2708C>G (p.Thr903Ser) rs760847102
NM_012470.4(TNPO3):c.2760del (p.Arg920fs) rs2128974636
NM_012470.4(TNPO3):c.2765_*2del (p.Phe922fs) rs2128974604
NM_012470.4(TNPO3):c.332C>T (p.Ala111Val) rs886044227
NM_012470.4(TNPO3):c.396-1G>C
NM_012470.4(TNPO3):c.437T>A (p.Ile146Asn) rs886044654
NM_012470.4(TNPO3):c.478C>T (p.Arg160Ter) rs752037576
NM_012470.4(TNPO3):c.497G>A (p.Arg166His) rs1385305064
NM_012470.4(TNPO3):c.528C>G (p.Tyr176Ter)
NM_012470.4(TNPO3):c.553-146del rs35061509
NM_012470.4(TNPO3):c.553-147_553-146del rs35061509
NM_012470.4(TNPO3):c.688G>T (p.Glu230Ter)
NM_012470.4(TNPO3):c.696+8A>G rs754601386
NM_012470.4(TNPO3):c.697-4_697-3delinsGA rs1801916406
NM_012470.4(TNPO3):c.761A>G (p.Tyr254Cys)
NM_012470.4(TNPO3):c.783dup (p.Asn262Ter)
NM_012470.4(TNPO3):c.802C>A (p.Gln268Lys) rs886043575
NM_012470.4(TNPO3):c.803A>G (p.Gln268Arg) rs538337275
NM_012470.4(TNPO3):c.862G>C (p.Asp288His) rs758890890
NM_012470.4(TNPO3):c.943G>C (p.Gly315Arg) rs886043406
NM_012470.4(TNPO3):c.991G>T (p.Ala331Ser) rs1801818228

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.