ClinVar Miner

List of variants in gene NUP205 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 144
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HGVS dbSNP gnomAD frequency
NM_015135.3(NUP205):c.3460+202A>G rs4732133 1.00000
NM_015135.3(NUP205):c.1624+137G>A rs4410839 0.99999
NM_015135.3(NUP205):c.2374+71T>C rs4296989 0.99147
NM_015135.3(NUP205):c.3310+307G>A rs4316099 0.98661
NM_015135.3(NUP205):c.2064+219A>G rs9649612 0.98308
NM_015135.3(NUP205):c.4793+58G>A rs10234309 0.80220
NM_015135.3(NUP205):c.28+190C>T rs6961420 0.54442
NM_015135.3(NUP205):c.4793+11G>A rs7810260 0.45427
NM_015135.3(NUP205):c.3460+248T>C rs4732134 0.40748
NM_015135.3(NUP205):c.1473+200G>A rs28666070 0.40031
NM_015135.3(NUP205):c.649-11T>C rs10252250 0.39418
NM_015135.3(NUP205):c.4671+102A>G rs6972359 0.39398
NM_015135.3(NUP205):c.5559+4C>T rs10260691 0.31332
NM_015135.3(NUP205):c.4672-128G>A rs10085457 0.30134
NM_015135.3(NUP205):c.1219-53T>C rs10271506 0.25757
NM_015135.3(NUP205):c.28+253T>G rs11763242 0.21960
NM_015135.3(NUP205):c.5265+235T>G rs7800189 0.21307
NM_015135.3(NUP205):c.4933-37_4933-36dup rs10690915 0.21291
NM_015135.3(NUP205):c.5683+212T>C rs12530845 0.21149
NM_015135.3(NUP205):c.5887-124A>G rs60179239 0.21144
NM_015135.3(NUP205):c.5886+138T>C rs7804936 0.21139
NM_015135.3(NUP205):c.5607T>C (p.Ala1869=) rs12540688 0.21129
NM_015135.3(NUP205):c.5265+46T>C rs7799891 0.20973
NM_015135.3(NUP205):c.2905+27C>T rs73725182 0.16149
NM_015135.3(NUP205):c.5392+145G>A rs6948382 0.15508
NM_015135.3(NUP205):c.5813-77C>A rs62479523 0.12974
NM_015135.3(NUP205):c.5393-87G>A rs73725437 0.12063
NM_015135.3(NUP205):c.4794-149G>A rs4073627 0.11782
NM_015135.3(NUP205):c.4793+252G>A rs36120453 0.10880
NM_015135.3(NUP205):c.4330+194C>T rs35766534 0.10779
NM_015135.3(NUP205):c.1625-88T>C rs76481679 0.09213
NM_015135.3(NUP205):c.1625-109C>G rs11772654 0.09196
NM_015135.3(NUP205):c.2065-48A>G rs79816318 0.09081
NM_015135.3(NUP205):c.2823+220T>C rs56105419 0.08993
NM_015135.3(NUP205):c.3196-49G>A rs73725194 0.07641
NM_015135.3(NUP205):c.3174G>A (p.Gln1058=) rs61734151 0.07636
NM_015135.3(NUP205):c.1042+72A>G rs73725145 0.06204
NM_015135.3(NUP205):c.1473+322T>C rs71539414 0.06070
NM_015135.3(NUP205):c.489-28G>A rs73725137 0.05674
NM_015135.3(NUP205):c.3195+160A>G rs79437265 0.05026
NM_015135.3(NUP205):c.5560-317A>C rs79592715 0.05022
NM_015135.3(NUP205):c.5392+177C>A rs78684057 0.05018
NM_015135.3(NUP205):c.5887-328C>T rs75709573 0.05004
NC_000007.14:g.135557703A>G rs62479496 0.04901
NM_015135.3(NUP205):c.2905+182A>G rs71539418 0.04642
NM_015135.3(NUP205):c.1042+269C>T rs57264139 0.04607
NM_015135.3(NUP205):c.5559+148C>T rs73452471 0.04450
NM_015135.3(NUP205):c.4331-232A>G rs73452466 0.04163
NM_015135.3(NUP205):c.5886+103G>A rs78735957 0.03970
NM_015135.3(NUP205):c.4794-254C>G rs79571749 0.03962
NM_015135.3(NUP205):c.2512+226C>G rs78466029 0.03906
NM_015135.3(NUP205):c.5907C>T (p.Asn1969=) rs61740269 0.03902
NM_015135.3(NUP205):c.5059+140A>T rs78695012 0.03885
NM_015135.3(NUP205):c.2014-207C>T rs75191469 0.03868
NM_015135.3(NUP205):c.1474-325del rs79242567 0.03856
NM_015135.3(NUP205):c.29-266T>A rs560449472 0.03843
NM_015135.3(NUP205):c.4008C>T (p.Ala1336=) rs11550518 0.03564
NM_015135.3(NUP205):c.1118T>C (p.Met373Thr) rs58392569 0.03522
NM_015135.3(NUP205):c.3311-293C>T rs12538589 0.03393
NM_015135.3(NUP205):c.3156G>A (p.Ala1052=) rs61734146 0.03390
NM_015135.3(NUP205):c.1119G>A (p.Met373Ile) rs61459701 0.03370
NM_015135.3(NUP205):c.1474-223T>A rs73725155 0.03350
NM_015135.3(NUP205):c.344-9C>G rs12539427 0.03347
NM_015135.3(NUP205):c.3460+89T>C rs78081135 0.03344
NM_015135.3(NUP205):c.171+51C>T rs76038385 0.02558
NM_015135.3(NUP205):c.171+227C>T rs76337543 0.02533
NM_015135.3(NUP205):c.1218+82T>C rs79480542 0.02523
NM_015135.3(NUP205):c.343+197G>T rs77463030 0.02522
NM_015135.3(NUP205):c.343+105C>A rs76315574 0.02424
NM_015135.3(NUP205):c.2427G>A (p.Leu809=) rs35467082 0.02422
NM_015135.3(NUP205):c.343+282A>G rs79697712 0.02420
NM_015135.3(NUP205):c.649-215T>C rs115215165 0.02420
NM_015135.3(NUP205):c.29-27G>A rs115498909 0.02419
NM_015135.3(NUP205):c.488+168T>C rs79189819 0.02417
NM_015135.3(NUP205):c.171+121C>A rs74661631 0.02395
NM_015135.3(NUP205):c.171+59G>C rs141765692 0.02311
NM_015135.3(NUP205):c.2275-39C>A rs146409284 0.01933
NM_015135.3(NUP205):c.4794-289A>T rs79650890 0.01852
NM_015135.3(NUP205):c.2013+106A>G rs188240897 0.01692
NM_015135.3(NUP205):c.28+27T>C rs117892953 0.01635
NM_015135.3(NUP205):c.1625-71A>G rs117136012 0.01597
NM_015135.3(NUP205):c.5136+72C>A rs113769506 0.01521
NM_015135.3(NUP205):c.2906-49G>A rs112100567 0.01488
NM_015135.3(NUP205):c.3772-183C>T rs111398150 0.01487
NM_015135.3(NUP205):c.*6C>T rs114786864 0.01481
NM_015135.3(NUP205):c.1818C>T (p.Thr606=) rs78913303 0.01435
NM_015135.3(NUP205):c.1335+30C>G rs6968195 0.01432
NM_015135.3(NUP205):c.2275-134T>C rs112286478 0.01366
NM_015135.3(NUP205):c.3196-101C>T rs117318173 0.01308
NM_015135.3(NUP205):c.1219-16C>G rs115575362 0.01291
NM_015135.3(NUP205):c.789A>G (p.Ser263=) rs116171760 0.01227
NM_015135.3(NUP205):c.4671+55T>C rs116697383 0.01205
NM_015135.3(NUP205):c.4232-11A>C rs116384712 0.01142
NM_015135.3(NUP205):c.4231+21C>G rs7810818 0.01140
NM_015135.3(NUP205):c.3311-69C>G rs114849244 0.01137
NM_015135.3(NUP205):c.28+292A>G rs73158974 0.00988
NM_015135.3(NUP205):c.786C>T (p.Gly262=) rs12707242 0.00877
NM_015135.3(NUP205):c.1625-277A>G rs193155830 0.00821
NM_015135.3(NUP205):c.3691-135A>G rs140433716 0.00568
NM_015135.3(NUP205):c.3311-208C>T rs192572737 0.00538
NM_015135.3(NUP205):c.4932+122C>A rs182999968 0.00437
NM_015135.3(NUP205):c.5385G>A (p.Pro1795=) rs61732900 0.00411
NM_015135.3(NUP205):c.172-141G>C rs73725133 0.00407
NM_015135.3(NUP205):c.4671+23T>C rs74494446 0.00385
NM_015135.3(NUP205):c.5392+41G>T rs77329735 0.00384
NM_015135.3(NUP205):c.5393-200T>C rs139074794 0.00354
NM_015135.3(NUP205):c.4672-188G>T rs150002062 0.00349
NM_015135.3(NUP205):c.4672-176A>C rs184649893 0.00331
NM_015135.3(NUP205):c.3196-262A>G rs141585551 0.00270
NM_015135.3(NUP205):c.-5C>T rs80096124 0.00129
NM_015135.3(NUP205):c.3430C>G (p.Leu1144Val) rs145671518 0.00121
NC_000007.14:g.135557662CAT[1] rs199853848
NC_000007.14:g.135648824= rs4415261
NM_015135.3(NUP205):c.*192dup rs145730110
NM_015135.3(NUP205):c.1042+285_1042+286insCTT rs35496854
NM_015135.3(NUP205):c.1042+295_1042+296dup rs11396157
NM_015135.3(NUP205):c.1042+296dup rs11396157
NM_015135.3(NUP205):c.1474-195_1474-193dup rs150579187
NM_015135.3(NUP205):c.171+179del rs563193250
NM_015135.3(NUP205):c.171+179dup rs563193250
NM_015135.3(NUP205):c.171+45del rs546492942
NM_015135.3(NUP205):c.1851A>C (p.Ala617=) rs7800214
NM_015135.3(NUP205):c.2275-205del rs138292498
NM_015135.3(NUP205):c.2702+100del rs559892201
NM_015135.3(NUP205):c.2824-276del rs202096156
NM_015135.3(NUP205):c.29-153_29-152insGTTA rs201427795
NM_015135.3(NUP205):c.29-228_29-200dup rs1491577075
NM_015135.3(NUP205):c.29-247ATATAA[3] rs1264298142
NM_015135.3(NUP205):c.3460+5G>C rs74594925
NM_015135.3(NUP205):c.3532+60del rs35690290
NM_015135.3(NUP205):c.3532+60dup rs35690290
NM_015135.3(NUP205):c.3691-170A>G rs73158989
NM_015135.3(NUP205):c.4793+220del rs148699396
NM_015135.3(NUP205):c.4793+57dup rs113302711
NM_015135.3(NUP205):c.5137-15T>C rs3800760
NM_015135.3(NUP205):c.5265+13T>C rs74654433
NM_015135.3(NUP205):c.5266-125del rs372398905
NM_015135.3(NUP205):c.5266-125dup rs372398905
NM_015135.3(NUP205):c.5266-127_5266-125dup rs372398905
NM_015135.3(NUP205):c.5266-128_5266-125dup rs372398905
NM_015135.3(NUP205):c.5393-305T>A rs79009087
NM_015135.3(NUP205):c.5559+312del rs143806514
NM_015135.3(NUP205):c.5559+64_5559+65insGGTCT rs58552282
NM_015135.3(NUP205):c.5886+178dup rs1166545777

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