ClinVar Miner

List of variants in gene EXOSC2 reported by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 228
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HGVS dbSNP gnomAD frequency
NM_014285.7(EXOSC2):c.873G>A (p.Gln291=) rs34680820 0.01515
NM_014285.7(EXOSC2):c.22C>G (p.Pro8Ala) rs148203698 0.00707
NM_014285.7(EXOSC2):c.673-20C>T rs139550512 0.00447
NM_014285.7(EXOSC2):c.854G>A (p.Arg285His) rs144576118 0.00386
NM_014285.7(EXOSC2):c.429T>C (p.Ala143=) rs117012336 0.00290
NM_014285.7(EXOSC2):c.552C>G (p.Thr184=) rs34120870 0.00227
NM_014285.7(EXOSC2):c.271-4A>G rs184826095 0.00174
NM_014285.7(EXOSC2):c.123-12G>A rs186124210 0.00160
NM_014285.7(EXOSC2):c.318G>A (p.Ser106=) rs138555762 0.00124
NM_014285.7(EXOSC2):c.426+9C>T rs369854065 0.00057
NM_014285.7(EXOSC2):c.224+17T>C rs375867059 0.00048
NM_014285.7(EXOSC2):c.36G>A (p.Lys12=) rs146844600 0.00034
NM_014285.7(EXOSC2):c.496-17G>A rs370229708 0.00030
NM_014285.7(EXOSC2):c.591C>T (p.Leu197=) rs148987082 0.00029
NM_014285.7(EXOSC2):c.496-18C>T rs372005026 0.00025
NM_014285.7(EXOSC2):c.623C>T (p.Thr208Ile) rs115530350 0.00022
NM_014285.7(EXOSC2):c.707G>A (p.Arg236Gln) rs143707199 0.00018
NM_014285.7(EXOSC2):c.495+7C>T rs185974439 0.00017
NM_014285.7(EXOSC2):c.639A>C (p.Glu213Asp) rs147223725 0.00017
NM_014285.7(EXOSC2):c.270+9G>A rs368161060 0.00015
NM_014285.7(EXOSC2):c.310C>A (p.Leu104Met) rs201749338 0.00015
NM_014285.7(EXOSC2):c.495+18T>G rs375645066 0.00013
NM_014285.7(EXOSC2):c.683T>G (p.Leu228Arg) rs150614184 0.00011
NM_014285.7(EXOSC2):c.823G>A (p.Glu275Lys) rs146807696 0.00011
NM_014285.7(EXOSC2):c.691C>T (p.Arg231Ter) rs149299789 0.00010
NM_014285.7(EXOSC2):c.185G>C (p.Arg62Thr) rs748977410 0.00009
NM_014285.7(EXOSC2):c.195G>T (p.Lys65Asn) rs199841784 0.00009
NM_014285.7(EXOSC2):c.224+3G>A rs370483071 0.00006
NM_014285.7(EXOSC2):c.453C>T (p.Asp151=) rs370896785 0.00006
NM_014285.7(EXOSC2):c.616T>C (p.Tyr206His) rs373884838 0.00006
NM_014285.7(EXOSC2):c.687T>C (p.Ala229=) rs751012139 0.00006
NM_014285.7(EXOSC2):c.271-9G>T rs374200125 0.00005
NM_014285.7(EXOSC2):c.495+16G>T rs200266086 0.00005
NM_014285.7(EXOSC2):c.655T>C (p.Phe219Leu) rs148687193 0.00005
NM_014285.7(EXOSC2):c.6G>A (p.Ala2=) rs755941119 0.00005
NM_014285.7(EXOSC2):c.705C>A (p.Ser235=) rs763461702 0.00005
NM_014285.7(EXOSC2):c.878G>A (p.Gly293Glu) rs745643416 0.00005
NM_014285.7(EXOSC2):c.139A>G (p.Met47Val) rs776570598 0.00004
NM_014285.7(EXOSC2):c.600C>T (p.Asn200=) rs368717971 0.00004
NM_014285.7(EXOSC2):c.706C>T (p.Arg236Trp) rs532025583 0.00004
NM_014285.7(EXOSC2):c.801+1G>A rs780641666 0.00004
NM_014285.7(EXOSC2):c.853C>T (p.Arg285Cys) rs773512685 0.00004
NM_014285.7(EXOSC2):c.123-13C>T rs754110717 0.00003
NM_014285.7(EXOSC2):c.162A>T (p.Ala54=) rs148157757 0.00003
NM_014285.7(EXOSC2):c.21T>A (p.Leu7=) rs765985454 0.00003
NM_014285.7(EXOSC2):c.541C>T (p.Arg181Trp) rs373383245 0.00003
NM_014285.7(EXOSC2):c.593G>C (p.Gly198Ala) rs756204866 0.00003
NM_014285.7(EXOSC2):c.844A>T (p.Met282Leu) rs371501959 0.00003
NM_014285.7(EXOSC2):c.135G>A (p.Thr45=) rs550383127 0.00002
NM_014285.7(EXOSC2):c.23C>T (p.Pro8Leu) rs759215090 0.00002
NM_014285.7(EXOSC2):c.270+16G>A rs182727844 0.00002
NM_014285.7(EXOSC2):c.31C>A (p.Arg11Ser) rs1361769558 0.00002
NM_014285.7(EXOSC2):c.474G>A (p.Thr158=) rs1457002657 0.00002
NM_014285.7(EXOSC2):c.496-19T>C rs771083215 0.00002
NM_014285.7(EXOSC2):c.728C>T (p.Ser243Leu) rs771988501 0.00002
NM_014285.7(EXOSC2):c.801+12A>C rs1425143270 0.00002
NM_014285.7(EXOSC2):c.802-12T>C rs748140544 0.00002
NM_014285.7(EXOSC2):c.134C>T (p.Thr45Met) rs748117919 0.00001
NM_014285.7(EXOSC2):c.13A>C (p.Met5Leu) rs763460421 0.00001
NM_014285.7(EXOSC2):c.161C>T (p.Ala54Val) rs1433969630 0.00001
NM_014285.7(EXOSC2):c.194A>C (p.Lys65Thr) rs1191171883 0.00001
NM_014285.7(EXOSC2):c.19C>A (p.Leu7Ile) rs1405646585 0.00001
NM_014285.7(EXOSC2):c.224+16G>A rs760555341 0.00001
NM_014285.7(EXOSC2):c.225-16G>T rs781702486 0.00001
NM_014285.7(EXOSC2):c.242G>C (p.Gly81Ala) rs768417818 0.00001
NM_014285.7(EXOSC2):c.249C>T (p.Ile83=) rs1006440166 0.00001
NM_014285.7(EXOSC2):c.259C>T (p.Arg87Ter) rs748372672 0.00001
NM_014285.7(EXOSC2):c.264C>T (p.Ile88=) rs1350447197 0.00001
NM_014285.7(EXOSC2):c.269A>G (p.Glu90Gly) rs1253259412 0.00001
NM_014285.7(EXOSC2):c.270+5C>T rs770798940 0.00001
NM_014285.7(EXOSC2):c.270+8C>T rs531053282 0.00001
NM_014285.7(EXOSC2):c.271-1G>A rs775286375 0.00001
NM_014285.7(EXOSC2):c.271-20G>A rs1455220679 0.00001
NM_014285.7(EXOSC2):c.271-7C>T rs759468995 0.00001
NM_014285.7(EXOSC2):c.273T>C (p.Val91=) rs371608727 0.00001
NM_014285.7(EXOSC2):c.276A>G (p.Gln92=) rs1007505538 0.00001
NM_014285.7(EXOSC2):c.29C>T (p.Ala10Val) rs1364784713 0.00001
NM_014285.7(EXOSC2):c.316T>C (p.Ser106Pro) rs573517629 0.00001
NM_014285.7(EXOSC2):c.317C>T (p.Ser106Leu) rs150081500 0.00001
NM_014285.7(EXOSC2):c.333G>A (p.Ser111=) rs201994835 0.00001
NM_014285.7(EXOSC2):c.335C>G (p.Ser112Cys) rs754145289 0.00001
NM_014285.7(EXOSC2):c.360+10A>G rs369403330 0.00001
NM_014285.7(EXOSC2):c.360+11C>T rs372270213 0.00001
NM_014285.7(EXOSC2):c.374C>T (p.Ala125Val) rs755305419 0.00001
NM_014285.7(EXOSC2):c.37C>T (p.Pro13Ser) rs780803058 0.00001
NM_014285.7(EXOSC2):c.426+11C>G rs768598729 0.00001
NM_014285.7(EXOSC2):c.426+18C>T rs748326368 0.00001
NM_014285.7(EXOSC2):c.427-18C>G rs1048355298 0.00001
NM_014285.7(EXOSC2):c.440C>T (p.Ala147Val) rs1447826836 0.00001
NM_014285.7(EXOSC2):c.473C>T (p.Thr158Met) rs1255734860 0.00001
NM_014285.7(EXOSC2):c.483G>T (p.Leu161=) rs1234328227 0.00001
NM_014285.7(EXOSC2):c.496-12A>G rs954298339 0.00001
NM_014285.7(EXOSC2):c.496-14A>T rs1564258872 0.00001
NM_014285.7(EXOSC2):c.496-1G>A rs763315114 0.00001
NM_014285.7(EXOSC2):c.496C>G (p.Leu166Val) rs1483324344 0.00001
NM_014285.7(EXOSC2):c.498A>G (p.Leu166=) rs1588201055 0.00001
NM_014285.7(EXOSC2):c.518A>T (p.Gln173Leu) rs776349352 0.00001
NM_014285.7(EXOSC2):c.542G>A (p.Arg181Gln) rs375878809 0.00001
NM_014285.7(EXOSC2):c.564T>C (p.Asp188=) rs751296911 0.00001
NM_014285.7(EXOSC2):c.592G>A (p.Gly198Ser) rs745994967 0.00001
NM_014285.7(EXOSC2):c.596A>G (p.Asn199Ser) rs779954577 0.00001
NM_014285.7(EXOSC2):c.658A>G (p.Ile220Val) rs751394088 0.00001
NM_014285.7(EXOSC2):c.659T>C (p.Ile220Thr) rs574696778 0.00001
NM_014285.7(EXOSC2):c.665A>G (p.Asn222Ser) rs543265054 0.00001
NM_014285.7(EXOSC2):c.670G>A (p.Glu224Lys) rs756258230 0.00001
NM_014285.7(EXOSC2):c.672+20A>G rs563153960 0.00001
NM_014285.7(EXOSC2):c.673-5T>G rs767300345 0.00001
NM_014285.7(EXOSC2):c.712C>T (p.Arg238Trp) rs561877923 0.00001
NM_014285.7(EXOSC2):c.752T>C (p.Leu251Pro) rs566092143 0.00001
NM_014285.7(EXOSC2):c.801+11C>T rs752003907 0.00001
NM_014285.7(EXOSC2):c.801+3A>G rs778390754 0.00001
NM_014285.7(EXOSC2):c.801+7T>G rs1184984016 0.00001
NM_014285.7(EXOSC2):c.801+8C>T rs1283364648 0.00001
NM_014285.7(EXOSC2):c.802-14T>C rs1336287273 0.00001
NM_014285.7(EXOSC2):c.819G>A (p.Lys273=) rs1831267719 0.00001
NM_014285.7(EXOSC2):c.830del (p.Met277fs) rs1257984475 0.00001
NM_014285.7(EXOSC2):c.847G>C (p.Glu283Gln) rs754695417 0.00001
NM_014285.7(EXOSC2):c.855C>A (p.Arg285=) rs777298280 0.00001
NM_014285.7(EXOSC2):c.859_862del (p.Arg287fs) rs765822902 0.00001
NC_000009.11:g.(?_133578420)_(133579161_?)del
NM_014285.7(EXOSC2):c.10G>C (p.Glu4Gln) rs1342334997
NM_014285.7(EXOSC2):c.126C>T (p.Gly42=) rs2490775268
NM_014285.7(EXOSC2):c.13A>G (p.Met5Val) rs763460421
NM_014285.7(EXOSC2):c.156C>G (p.Leu52=) rs2490775368
NM_014285.7(EXOSC2):c.157A>G (p.Ile53Val) rs2490775378
NM_014285.7(EXOSC2):c.160G>A (p.Ala54Thr) rs1831073573
NM_014285.7(EXOSC2):c.168T>A (p.Val56=) rs2132626335
NM_014285.7(EXOSC2):c.16A>C (p.Arg6=) rs1259246653
NM_014285.7(EXOSC2):c.172G>C (p.Gly58Arg) rs939587418
NM_014285.7(EXOSC2):c.186_187del (p.Arg62fs) rs1831074107
NM_014285.7(EXOSC2):c.200T>C (p.Ile67Thr) rs1831074653
NM_014285.7(EXOSC2):c.21T>C (p.Leu7=) rs765985454
NM_014285.7(EXOSC2):c.224+10A>G rs2132626530
NM_014285.7(EXOSC2):c.224+12del rs1831075564
NM_014285.7(EXOSC2):c.224+18G>A
NM_014285.7(EXOSC2):c.225-4T>G
NM_014285.7(EXOSC2):c.22C>T (p.Pro8Ser) rs148203698
NM_014285.7(EXOSC2):c.23del (p.Pro8fs) rs2490767375
NM_014285.7(EXOSC2):c.24A>G (p.Pro8=) rs143849216
NM_014285.7(EXOSC2):c.250G>A (p.Val84Ile) rs1831123512
NM_014285.7(EXOSC2):c.254T>C (p.Val85Ala) rs2490782120
NM_014285.7(EXOSC2):c.260G>A (p.Arg87Gln) rs139286519
NM_014285.7(EXOSC2):c.260G>T (p.Arg87Leu) rs139286519
NM_014285.7(EXOSC2):c.270+13T>A rs752883972
NM_014285.7(EXOSC2):c.270+13T>C rs752883972
NM_014285.7(EXOSC2):c.270+14C>G rs751628968
NM_014285.7(EXOSC2):c.270+18T>A rs371298052
NM_014285.7(EXOSC2):c.270+18T>C rs371298052
NM_014285.7(EXOSC2):c.270+6G>A rs776547436
NM_014285.7(EXOSC2):c.270G>C (p.Glu90Asp) rs1831124325
NM_014285.7(EXOSC2):c.31C>T (p.Arg11Cys) rs1361769558
NM_014285.7(EXOSC2):c.321C>G (p.Val107=) rs2490785323
NM_014285.7(EXOSC2):c.322T>C (p.Leu108=) rs1831138394
NM_014285.7(EXOSC2):c.330C>T (p.Leu110=) rs2132632899
NM_014285.7(EXOSC2):c.331dup (p.Ser111fs) rs2490785355
NM_014285.7(EXOSC2):c.332C>T (p.Ser111Leu) rs1208316253
NM_014285.7(EXOSC2):c.336C>G (p.Ser112=)
NM_014285.7(EXOSC2):c.337A>G (p.Met113Val) rs2132632945
NM_014285.7(EXOSC2):c.360+11C>A rs372270213
NM_014285.7(EXOSC2):c.360+20_360+47del rs781717993
NM_014285.7(EXOSC2):c.382G>A (p.Glu128Lys) rs149268432
NM_014285.7(EXOSC2):c.384G>A (p.Glu128=) rs2132634920
NM_014285.7(EXOSC2):c.385C>T (p.Leu129Phe) rs1831162319
NM_014285.7(EXOSC2):c.396A>G (p.Arg132=) rs2490788567
NM_014285.7(EXOSC2):c.406C>T (p.Gln136Ter) rs1284242111
NM_014285.7(EXOSC2):c.407A>G (p.Gln136Arg) rs2490788628
NM_014285.7(EXOSC2):c.412G>A (p.Gly138Arg) rs2490788667
NM_014285.7(EXOSC2):c.414G>A (p.Gly138=) rs113416483
NM_014285.7(EXOSC2):c.421A>G (p.Ile141Val)
NM_014285.7(EXOSC2):c.426+16C>T rs750873098
NM_014285.7(EXOSC2):c.427-10C>T rs2490794423
NM_014285.7(EXOSC2):c.427-19C>T rs2490794375
NM_014285.7(EXOSC2):c.427-20T>G rs753001242
NM_014285.7(EXOSC2):c.427G>A (p.Ala143Thr) rs201226761
NM_014285.7(EXOSC2):c.42T>G (p.Leu14=) rs2490767541
NM_014285.7(EXOSC2):c.432G>A (p.Glu144=) rs112276515
NM_014285.7(EXOSC2):c.447C>T (p.Phe149=) rs753861434
NM_014285.7(EXOSC2):c.450T>G (p.Ser150=) rs777419805
NM_014285.7(EXOSC2):c.451G>A (p.Asp151Asn) rs2490794610
NM_014285.7(EXOSC2):c.452A>T (p.Asp151Val)
NM_014285.7(EXOSC2):c.495+1G>T rs1564258092
NM_014285.7(EXOSC2):c.495+20T>G rs2490794949
NM_014285.7(EXOSC2):c.495+8G>A rs377549336
NM_014285.7(EXOSC2):c.495+9G>A rs2132639410
NM_014285.7(EXOSC2):c.496-11T>C rs986630045
NM_014285.7(EXOSC2):c.496-16T>C
NM_014285.7(EXOSC2):c.496-17G>C rs370229708
NM_014285.7(EXOSC2):c.499G>C (p.Gly167Arg) rs372156461
NM_014285.7(EXOSC2):c.503_504del (p.Gln168fs) rs760414467
NM_014285.7(EXOSC2):c.503del (p.Gln168fs) rs1253989310
NM_014285.7(EXOSC2):c.554A>C (p.His185Pro) rs2490800404
NM_014285.7(EXOSC2):c.569C>T (p.Pro190Leu) rs2490800450
NM_014285.7(EXOSC2):c.586A>G (p.Ile196Val) rs757541168
NM_014285.7(EXOSC2):c.592G>T (p.Gly198Cys) rs745994967
NM_014285.7(EXOSC2):c.618C>T (p.Tyr206=) rs2132642575
NM_014285.7(EXOSC2):c.629A>C (p.Glu210Ala) rs1831233765
NM_014285.7(EXOSC2):c.634A>G (p.Lys212Glu) rs1831233923
NM_014285.7(EXOSC2):c.636A>G (p.Lys212=) rs1831233992
NM_014285.7(EXOSC2):c.645A>G (p.Glu215=) rs774803904
NM_014285.7(EXOSC2):c.648_649del (p.Gly218fs) rs2490801124
NM_014285.7(EXOSC2):c.649G>A (p.Gly217Arg) rs2132642722
NM_014285.7(EXOSC2):c.663A>G (p.Ala221=) rs2490801222
NM_014285.7(EXOSC2):c.672+11A>G rs2490801317
NM_014285.7(EXOSC2):c.672+15_672+16del rs556125205
NM_014285.7(EXOSC2):c.672+3G>A rs2490801292
NM_014285.7(EXOSC2):c.673-20C>G rs139550512
NM_014285.7(EXOSC2):c.673-3T>C rs750164021
NM_014285.7(EXOSC2):c.684T>C (p.Leu228=) rs912972216
NM_014285.7(EXOSC2):c.688G>A (p.Asp230Asn) rs2132644650
NM_014285.7(EXOSC2):c.695A>G (p.Glu232Gly) rs2132644684
NM_014285.7(EXOSC2):c.700A>G (p.Ile234Val) rs2490803971
NM_014285.7(EXOSC2):c.706del (p.Arg236fs) rs1316161545
NM_014285.7(EXOSC2):c.713G>A (p.Arg238Gln) rs768080911
NM_014285.7(EXOSC2):c.720C>T (p.Cys240=) rs761749250
NM_014285.7(EXOSC2):c.728C>A (p.Ser243Ter) rs771988501
NM_014285.7(EXOSC2):c.729G>A (p.Ser243=) rs376732746
NM_014285.7(EXOSC2):c.729G>T (p.Ser243=) rs376732746
NM_014285.7(EXOSC2):c.751C>G (p.Leu251Val) rs2490804291
NM_014285.7(EXOSC2):c.753G>A (p.Leu251=) rs1276417412
NM_014285.7(EXOSC2):c.755A>C (p.Tyr252Ser) rs1205444391
NM_014285.7(EXOSC2):c.771G>A (p.Leu257=)
NM_014285.7(EXOSC2):c.777_779del (p.Tyr260del) rs2490804386
NM_014285.7(EXOSC2):c.801+10C>T
NM_014285.7(EXOSC2):c.801+17C>A
NM_014285.7(EXOSC2):c.801+6C>T rs1831257109
NM_014285.7(EXOSC2):c.804C>G (p.Ile268Met) rs1831267557
NM_014285.7(EXOSC2):c.851C>T (p.Thr284Ile) rs1831269162
NM_014285.7(EXOSC2):c.854G>T (p.Arg285Leu) rs144576118

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