ClinVar Miner

List of variants in gene TNPO3 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 116
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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
Single allele 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.2273+16G>A rs116108543 0.00200
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.275C>T (p.Thr92Ile) rs61756250 0.00037
NM_012470.4(TNPO3):c.2061+18G>A rs376309645 0.00026
NM_012470.4(TNPO3):c.857G>A (p.Arg286His) rs140709222 0.00013
NM_012470.4(TNPO3):c.1636C>T (p.Arg546Cys) rs148210365 0.00006
NM_012470.4(TNPO3):c.2431-6A>C rs190759031 0.00005
NM_012470.4(TNPO3):c.738G>A (p.Ser246=) rs779514660 0.00004
NM_012470.4(TNPO3):c.1011+20A>G rs199605219 0.00003
NM_012470.4(TNPO3):c.1158+17A>G rs764995047 0.00003
NM_012470.4(TNPO3):c.1474G>A (p.Val492Ile) rs758997411 0.00002
NM_012470.4(TNPO3):c.2385C>T (p.Val795=) rs1057064473 0.00002
NM_012470.4(TNPO3):c.2542del (p.Tyr848fs) rs773574448 0.00002
NM_012470.4(TNPO3):c.1042C>T (p.Arg348Ter) rs1801458570 0.00001
NM_012470.4(TNPO3):c.1209A>G (p.Val403=) rs754874514 0.00001
NM_012470.4(TNPO3):c.1562A>G (p.Lys521Arg) rs755030982 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.1841G>A (p.Arg614His) rs781272417 0.00001
NM_012470.4(TNPO3):c.1899G>A (p.Pro633=) rs747905488 0.00001
NM_012470.4(TNPO3):c.2061+17C>T rs190490751 0.00001
NM_012470.4(TNPO3):c.2256G>T (p.Leu752=) rs1351482070 0.00001
NM_012470.4(TNPO3):c.873-3C>T rs780935123 0.00001
NM_012470.4(TNPO3):c.1004A>G (p.Gln335Arg) rs2150377279
NM_012470.4(TNPO3):c.1372A>G (p.Thr458Ala) rs1178751871
NM_012470.4(TNPO3):c.1421A>G (p.His474Arg) rs1554438219
NM_012470.4(TNPO3):c.148T>C (p.Leu50=) rs1057523314
NM_012470.4(TNPO3):c.155A>C (p.Gln52Pro)
NM_012470.4(TNPO3):c.1782+2dup rs1085307475
NM_012470.4(TNPO3):c.1783-303AAT[3] rs199516284
NM_012470.4(TNPO3):c.1859+209dup rs35552227
NM_012470.4(TNPO3):c.1958G>T (p.Arg653Leu)
NM_012470.4(TNPO3):c.1999C>T (p.Arg667Cys) rs2129003608
NM_012470.4(TNPO3):c.2061+17C>A rs190490751
NM_012470.4(TNPO3):c.2061+18dup rs145442081
NM_012470.4(TNPO3):c.2178+156_2178+158del rs3830639
NM_012470.4(TNPO3):c.2212C>G (p.Gln738Glu) rs1798907371
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.2406C>G (p.Leu802=) rs1554435539
NM_012470.4(TNPO3):c.2430+199dup rs566362874
NM_012470.4(TNPO3):c.2603T>C (p.Phe868Ser) rs1798023288
NM_012470.4(TNPO3):c.2676C>G (p.His892Gln) rs1064796299
NM_012470.4(TNPO3):c.2765_*2del (p.Phe922fs) rs2128974604
NM_012470.4(TNPO3):c.322-16A>G rs768458902
NM_012470.4(TNPO3):c.396-1G>C
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.697-4_697-3delinsGA rs1801916406
NM_012470.4(TNPO3):c.783dup (p.Asn262Ter)
NM_012470.4(TNPO3):c.991G>T (p.Ala331Ser) rs1801818228

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