ClinVar Miner

List of variants in gene HNRNPU reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 109
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HGVS dbSNP gnomAD frequency
NM_031844.3(HNRNPU):c.261G>A (p.Glu87=) rs6675421 0.28876
NM_031844.3(HNRNPU):c.877+71T>A rs12124462 0.28294
NM_031844.3(HNRNPU):c.1495-113G>C rs9730334 0.21984
NM_031844.3(HNRNPU):c.1017+326C>T rs12069105 0.21897
NM_031844.3(HNRNPU):c.1615-127A>G rs1874393 0.15445
NM_031844.3(HNRNPU):c.877+70G>A rs58736171 0.13488
NM_031844.3(HNRNPU):c.2352+102G>T rs10927336 0.13048
NM_031844.3(HNRNPU):c.1017+272G>A rs12079538 0.12535
NM_031844.3(HNRNPU):c.1117+24T>G rs73128486 0.06036
NM_031844.3(HNRNPU):c.1615-209C>T rs76169958 0.05593
NM_031844.3(HNRNPU):c.1231-200T>A rs112642178 0.02318
NM_031844.3(HNRNPU):c.1117+153G>A rs79834162 0.02311
NM_031844.3(HNRNPU):c.2352+14A>T rs57080269 0.02263
NM_031844.3(HNRNPU):c.803+11C>T rs74152197 0.01825
NC_000001.11:g.244864715T>G rs116239278 0.01790
NM_031844.3(HNRNPU):c.1017+117A>G rs141285794 0.00676
NM_031844.3(HNRNPU):c.2169C>T (p.Ala723=) rs11537737 0.00657
NM_031844.3(HNRNPU):c.1495-132C>T rs111590102 0.00560
NM_031844.3(HNRNPU):c.1230+125del rs147249717 0.00558
NM_031844.3(HNRNPU):c.141C>T (p.Ala47=) rs111518952 0.00536
NM_031844.3(HNRNPU):c.1017+50T>A rs116724293 0.00409
NM_031844.3(HNRNPU):c.1230+47T>C rs189965735 0.00363
NM_031844.3(HNRNPU):c.878-94G>C rs113453595 0.00305
NM_031844.3(HNRNPU):c.1743+8G>T rs75674611 0.00304
NM_031844.3(HNRNPU):c.1743+10A>C rs75053711 0.00248
NM_031844.3(HNRNPU):c.-41G>A rs376110167 0.00168
NM_031844.3(HNRNPU):c.1215G>A (p.Val405=) rs147232928 0.00161
NM_031844.3(HNRNPU):c.507G>A (p.Gln169=) rs139561508 0.00049
NM_031844.3(HNRNPU):c.1251A>G (p.Val417=) rs142767399 0.00045
NM_031844.3(HNRNPU):c.1744-37T>C rs202194880 0.00031
NM_031844.3(HNRNPU):c.2168-12C>G rs200427582 0.00025
NM_031844.3(HNRNPU):c.878-69G>A rs778202204 0.00017
NM_031844.3(HNRNPU):c.621G>A (p.Gln207=) rs759528610 0.00013
NM_031844.3(HNRNPU):c.1744-47G>A rs377740635 0.00007
NM_031844.3(HNRNPU):c.1208A>C (p.Asn403Thr) rs767181341 0.00006
NM_031844.3(HNRNPU):c.567C>T (p.Gly189=) rs756832741 0.00006
NM_031844.3(HNRNPU):c.1460G>C (p.Gly487Ala) rs199740131 0.00005
NM_031844.3(HNRNPU):c.282A>G (p.Glu94=) rs990170673 0.00005
NM_031844.3(HNRNPU):c.1434C>T (p.Asn478=) rs778730784 0.00004
NM_031844.3(HNRNPU):c.374A>C (p.Glu125Ala) rs199765762 0.00004
NM_031844.3(HNRNPU):c.2269C>T (p.Pro757Ser) rs921745963 0.00003
NM_031844.3(HNRNPU):c.680C>T (p.Ala227Val) rs755670533 0.00003
NM_031844.3(HNRNPU):c.875C>T (p.Thr292Ile) rs141449330 0.00003
NM_031844.3(HNRNPU):c.2424+16T>C rs537512846 0.00002
NM_031844.3(HNRNPU):c.1439C>T (p.Pro480Leu) rs1171471843 0.00001
NM_031844.3(HNRNPU):c.1912+35T>A rs545348960 0.00001
NM_031844.3(HNRNPU):c.2193T>C (p.Asn731=) rs372228779 0.00001
NM_031844.3(HNRNPU):c.533G>C (p.Gly178Ala) rs1345467904 0.00001
NM_031844.3(HNRNPU):c.659G>T (p.Gly220Val) rs1463061163 0.00001
NM_031844.3(HNRNPU):c.877+47T>G rs372227800 0.00001
NM_031844.2(HNRNPU):c.2166_2167+1delAGG rs575582638
NM_031844.3(HNRNPU):c.-141C>T rs185164697
NM_031844.3(HNRNPU):c.1017+137TC[2] rs201625628
NM_031844.3(HNRNPU):c.1018-13A>G rs1680766348
NM_031844.3(HNRNPU):c.1029G>C (p.Lys343Asn)
NM_031844.3(HNRNPU):c.1061T>C (p.Ile354Thr)
NM_031844.3(HNRNPU):c.1118-30C>A rs145042684
NM_031844.3(HNRNPU):c.1118-7_1118-3del rs1064796710
NM_031844.3(HNRNPU):c.1120GAA[2] (p.Glu376del) rs2102987167
NM_031844.3(HNRNPU):c.1167C>T (p.Cys389=) rs906134616
NM_031844.3(HNRNPU):c.1230+5G>A rs1553282723
NM_031844.3(HNRNPU):c.1387G>C (p.Glu463Gln)
NM_031844.3(HNRNPU):c.1411G>A (p.Glu471Lys) rs775402274
NM_031844.3(HNRNPU):c.1450C>T (p.Arg484Ter) rs1553282635
NM_031844.3(HNRNPU):c.1451G>A (p.Arg484Gln) rs2102986610
NM_031844.3(HNRNPU):c.1494+21del rs750413170
NM_031844.3(HNRNPU):c.1518del (p.Gly507fs) rs1064797011
NM_031844.3(HNRNPU):c.1544C>T (p.Thr515Ile) rs1411908199
NM_031844.3(HNRNPU):c.158T>C (p.Met53Thr)
NM_031844.3(HNRNPU):c.1614+337A>G rs576831324
NM_031844.3(HNRNPU):c.1615-288_1615-285del rs200020281
NM_031844.3(HNRNPU):c.1669C>T (p.Gln557Ter) rs1553282390
NM_031844.3(HNRNPU):c.1681C>T (p.Gln561Ter) rs1553282385
NM_031844.3(HNRNPU):c.1856A>G (p.Lys619Arg)
NM_031844.3(HNRNPU):c.1865_1867del (p.Glu622del) rs1553282322
NM_031844.3(HNRNPU):c.1895C>A (p.Ala632Glu) rs868735439
NM_031844.3(HNRNPU):c.191_206del (p.Gly64fs) rs1553284007
NM_031844.3(HNRNPU):c.2119A>G (p.Arg707Gly) rs2102985342
NM_031844.3(HNRNPU):c.2167+39C>A rs190132789
NM_031844.3(HNRNPU):c.2168-1G>T rs2102985114
NM_031844.3(HNRNPU):c.226C>G (p.Gln76Glu)
NM_031844.3(HNRNPU):c.2270_2271del (p.Pro757fs) rs1135401734
NM_031844.3(HNRNPU):c.2319_2320del (p.Gly774fs) rs1553282089
NM_031844.3(HNRNPU):c.2351A>C (p.Gln784Pro) rs2102984930
NM_031844.3(HNRNPU):c.2353-114_2353-111del rs59942516
NM_031844.3(HNRNPU):c.2425-2A>G rs1553281924
NM_031844.3(HNRNPU):c.2466A>T (p.Gln822His) rs1064796325
NM_031844.3(HNRNPU):c.253dup (p.Glu85fs) rs1553283982
NM_031844.3(HNRNPU):c.264AGAGGA[1] (p.Glu93_Glu94del) rs770670938
NM_031844.3(HNRNPU):c.266_283dup (p.Glu89_Glu94dup) rs1558190683
NM_031844.3(HNRNPU):c.316_322del (p.Leu106fs) rs1553283946
NM_031844.3(HNRNPU):c.353C>A (p.Ser118Ter) rs1057524584
NM_031844.3(HNRNPU):c.365AGG[3] (p.Glu125del) rs747108904
NM_031844.3(HNRNPU):c.374_375delinsCC (p.Glu125Ala) rs1680928684
NM_031844.3(HNRNPU):c.375G>C (p.Glu125Asp) rs752671029
NM_031844.3(HNRNPU):c.386A>G (p.Glu129Gly)
NM_031844.3(HNRNPU):c.420A>C (p.Glu140Asp) rs1325726632
NM_031844.3(HNRNPU):c.520C>T (p.Gln174Ter) rs886041983
NM_031844.3(HNRNPU):c.550_571dup (p.Thr191fs) rs1064794823
NM_031844.3(HNRNPU):c.651AGGCGGCGG[1] (p.Gly221_Gly223del) rs757585114
NM_031844.3(HNRNPU):c.651_660del (p.Gly218fs) rs779453109
NM_031844.3(HNRNPU):c.669_691dup (p.Gly231fs) rs754216321
NM_031844.3(HNRNPU):c.691+1G>A
NM_031844.3(HNRNPU):c.743_749del (p.Arg248fs) rs1553283444
NM_031844.3(HNRNPU):c.75_78del (p.Ser26fs) rs1573338529
NM_031844.3(HNRNPU):c.817C>T (p.Gln273Ter)
NM_031844.3(HNRNPU):c.831AGA[2] (p.Glu279del) rs747301226
NM_031844.3(HNRNPU):c.878-9T>C rs573967558
NM_031844.3(HNRNPU):c.994G>A (p.Gly332Ser)

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