ClinVar Miner

List of variants in gene TNPO3 reported as uncertain significance by Eurofins NTD LLC (GA)

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Total variants: 69
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HGVS dbSNP gnomAD frequency
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.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.1365C>G (p.Asn455Lys) rs1177744213 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.704A>T (p.Asp235Val) rs886043855 0.00003
NM_012470.4(TNPO3):c.1453G>A (p.Val485Ile) rs751986019 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.1359-5C>T rs757673014 0.00001
NM_012470.4(TNPO3):c.1403G>A (p.Arg468His) rs534068313 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.1810A>G (p.Ile604Val) rs886043402 0.00001
NM_012470.4(TNPO3):c.1818A>T (p.Ser606=) rs1006923306 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.2062-8C>G rs1486585360 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.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.1104C>T (p.Tyr368=) rs1554439189
NM_012470.4(TNPO3):c.1185C>A (p.Asp395Glu) rs886043107
NM_012470.4(TNPO3):c.1531T>C (p.Cys511Arg) rs886044027
NM_012470.4(TNPO3):c.1607A>C (p.Gln536Pro) rs886043969
NM_012470.4(TNPO3):c.1782G>A (p.Lys594=) rs886044359
NM_012470.4(TNPO3):c.1824C>T (p.Pro608=) rs1563092740
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.2274-5A>G rs567711266
NM_012470.4(TNPO3):c.2431-2A>C rs886043142
NM_012470.4(TNPO3):c.2520C>G (p.Thr840=) rs886042837
NM_012470.4(TNPO3):c.2708C>G (p.Thr903Ser) rs760847102
NM_012470.4(TNPO3):c.332C>T (p.Ala111Val) rs886044227
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.696+8A>G rs754601386
NM_012470.4(TNPO3):c.802C>A (p.Gln268Lys) rs886043575
NM_012470.4(TNPO3):c.862G>C (p.Asp288His) rs758890890
NM_012470.4(TNPO3):c.943G>C (p.Gly315Arg) rs886043406

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