ClinVar Miner

List of variants in gene CHRNA2 studied for not provided

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Total variants: 192
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HGVS dbSNP gnomAD frequency
NM_000742.4(CHRNA2):c.74-343G>C rs2565064 0.79455
NM_000742.4(CHRNA2):c.73+149C>G rs2472554 0.79409
NM_000742.4(CHRNA2):c.1465-21T>C rs735421 0.27021
NM_000742.4(CHRNA2):c.449+317A>G rs3824103 0.22664
NM_000742.4(CHRNA2):c.340-336C>A rs2099166 0.18172
NM_000742.4(CHRNA2):c.351C>T (p.Asp117=) rs2565061 0.17492
NM_000742.4(CHRNA2):c.73+236G>A rs2565066 0.15938
NM_000742.4(CHRNA2):c.-563T>A rs2565060 0.15796
NM_000742.4(CHRNA2):c.-565T>A rs879442926 0.04553
NM_000742.4(CHRNA2):c.450-29G>A rs76223749 0.04014
NM_000742.4(CHRNA2):c.-137+99G>A rs7818758 0.03901
NM_000742.4(CHRNA2):c.-136-189G>C rs61507083 0.03518
NM_000742.4(CHRNA2):c.450-295A>G rs114466670 0.02274
NM_000742.4(CHRNA2):c.450-156A>G rs71651699 0.02007
NM_000742.4(CHRNA2):c.1465-290C>T rs116181978 0.01545
NM_000742.4(CHRNA2):c.449+231A>G rs7823220 0.01348
NM_000742.4(CHRNA2):c.1465-299G>A rs115173507 0.01313
NM_000742.4(CHRNA2):c.771C>T (p.Tyr257=) rs56229264 0.01257
NM_000742.4(CHRNA2):c.74-346C>T rs180982173 0.00864
NM_000742.4(CHRNA2):c.74-207T>C rs60646603 0.00639
NM_000742.4(CHRNA2):c.1464+153_1464+160del rs377465471 0.00493
NM_000742.4(CHRNA2):c.*108C>T rs147882344 0.00421
NM_000742.4(CHRNA2):c.294+100C>T rs116459673 0.00407
NM_000742.4(CHRNA2):c.294+116T>C rs185419685 0.00407
NM_000742.4(CHRNA2):c.*285G>C rs111565880 0.00356
NM_000742.4(CHRNA2):c.-379T>C rs75861520 0.00327
NM_000742.4(CHRNA2):c.1434C>A (p.Asp478Glu) rs56344740 0.00307
NM_000742.4(CHRNA2):c.1500C>T (p.Ile500=) rs143223159 0.00150
NM_000742.4(CHRNA2):c.*1849A>G rs531828656 0.00130
NM_000742.4(CHRNA2):c.294+28G>A rs376078367 0.00072
NM_000742.4(CHRNA2):c.1465-45T>A rs202078247 0.00058
NM_000742.4(CHRNA2):c.383G>A (p.Gly128Asp) rs138682847 0.00058
NM_000742.4(CHRNA2):c.987C>T (p.Gly329=) rs147530139 0.00055
NM_000742.4(CHRNA2):c.731A>G (p.Lys244Arg) rs146751925 0.00051
NM_000742.4(CHRNA2):c.1530C>T (p.Ile510=) rs149142237 0.00046
NM_000742.4(CHRNA2):c.710C>A (p.Thr237Lys) rs140350483 0.00045
NM_000742.4(CHRNA2):c.210C>T (p.Tyr70=) rs144316375 0.00041
NM_000742.4(CHRNA2):c.166A>T (p.Thr56Ser) rs144185168 0.00040
NM_000742.4(CHRNA2):c.1234G>A (p.Glu412Lys) rs141721605 0.00039
NM_000742.4(CHRNA2):c.140C>T (p.Thr47Met) rs74772771 0.00036
NM_000742.4(CHRNA2):c.745G>A (p.Ala249Thr) rs77710085 0.00029
NM_000742.4(CHRNA2):c.966G>A (p.Ser322=) rs140118184 0.00029
NM_000742.4(CHRNA2):c.295-12T>G rs369707163 0.00020
NM_000742.4(CHRNA2):c.45C>T (p.Ser15=) rs149934219 0.00018
NM_000742.4(CHRNA2):c.173C>T (p.Thr58Ile) rs151268950 0.00015
NM_000742.4(CHRNA2):c.401G>A (p.Arg134Lys) rs150112824 0.00013
NM_000742.4(CHRNA2):c.246C>T (p.Asp82=) rs201244136 0.00011
NM_000742.4(CHRNA2):c.182G>A (p.Arg61Gln) rs568479156 0.00010
NM_000742.4(CHRNA2):c.984C>T (p.Ile328=) rs371858399 0.00009
NM_000742.4(CHRNA2):c.1099C>T (p.Arg367Trp) rs751699392 0.00007
NM_000742.4(CHRNA2):c.1432G>A (p.Asp478Asn) rs141072985 0.00006
NM_000742.4(CHRNA2):c.1158C>T (p.Pro386=) rs560790452 0.00005
NM_000742.4(CHRNA2):c.1431C>T (p.Ala477=) rs373912586 0.00005
NM_000742.4(CHRNA2):c.1464G>A (p.Ser488=) rs796052305 0.00005
NM_000742.4(CHRNA2):c.202C>T (p.Arg68Trp) rs376970816 0.00005
NM_000742.4(CHRNA2):c.416T>C (p.Met139Thr) rs770447351 0.00005
NM_000742.4(CHRNA2):c.*8T>C rs760680104 0.00004
NM_000742.4(CHRNA2):c.1064G>A (p.Arg355His) rs368791756 0.00004
NM_000742.4(CHRNA2):c.1073G>T (p.Ser358Ile) rs74341575 0.00004
NM_000742.4(CHRNA2):c.1123C>G (p.Pro375Ala) rs746613509 0.00004
NM_000742.4(CHRNA2):c.1198T>A (p.Ser400Thr) rs771693410 0.00004
NM_000742.4(CHRNA2):c.289G>A (p.Asp97Asn) rs775714882 0.00004
NM_000742.4(CHRNA2):c.869C>T (p.Pro290Leu) rs767619637 0.00004
NM_000742.4(CHRNA2):c.905C>T (p.Ser302Leu) rs367914235 0.00004
NM_000742.4(CHRNA2):c.-136-19C>T rs947838271 0.00003
NM_000742.4(CHRNA2):c.1002C>T (p.Phe334=) rs780941610 0.00003
NM_000742.4(CHRNA2):c.121C>T (p.Leu41Phe) rs796052307 0.00003
NM_000742.4(CHRNA2):c.227C>T (p.Pro76Leu) rs199810678 0.00003
NM_000742.4(CHRNA2):c.228G>A (p.Pro76=) rs200277900 0.00003
NM_000742.4(CHRNA2):c.482C>T (p.Thr161Ile) rs376045534 0.00003
NM_000742.4(CHRNA2):c.525C>T (p.Pro175=) rs1026442070 0.00003
NM_000742.4(CHRNA2):c.-132G>A rs755685493 0.00002
NM_000742.4(CHRNA2):c.1052A>G (p.Asn351Ser) rs770305730 0.00002
NM_000742.4(CHRNA2):c.1127G>A (p.Arg376Gln) rs374512926 0.00002
NM_000742.4(CHRNA2):c.1165C>T (p.Leu389Phe) rs796052303 0.00002
NM_000742.4(CHRNA2):c.1270G>A (p.Ala424Thr) rs767138285 0.00002
NM_000742.4(CHRNA2):c.1531G>A (p.Val511Ile) rs796052306 0.00002
NM_000742.4(CHRNA2):c.259C>T (p.Arg87Cys) rs778191765 0.00002
NM_000742.4(CHRNA2):c.294+5G>A rs774398407 0.00002
NM_000742.4(CHRNA2):c.432C>A (p.Asp144Glu) rs796052297 0.00002
NM_000742.4(CHRNA2):c.73G>C (p.Gly25Arg) rs1064796550 0.00002
NM_000742.4(CHRNA2):c.1015G>A (p.Val339Ile) rs1064797343 0.00001
NM_000742.4(CHRNA2):c.1021C>G (p.Leu341Val) rs750301958 0.00001
NM_000742.4(CHRNA2):c.1030G>A (p.Val344Ile) rs567044128 0.00001
NM_000742.4(CHRNA2):c.1076C>T (p.Thr359Ile) rs888935641 0.00001
NM_000742.4(CHRNA2):c.1145G>A (p.Arg382Gln) rs888244000 0.00001
NM_000742.4(CHRNA2):c.1176C>T (p.Pro392=) rs764346961 0.00001
NM_000742.4(CHRNA2):c.1181G>A (p.Arg394His) rs761054762 0.00001
NM_000742.4(CHRNA2):c.1218C>G (p.Ser406Arg) rs749199596 0.00001
NM_000742.4(CHRNA2):c.1248G>C (p.Val416=) rs370878600 0.00001
NM_000742.4(CHRNA2):c.12C>T (p.Ser4=) rs1057522016 0.00001
NM_000742.4(CHRNA2):c.1373G>C (p.Gly458Ala) rs751242542 0.00001
NM_000742.4(CHRNA2):c.1552G>A (p.Gly518Ser) rs755631456 0.00001
NM_000742.4(CHRNA2):c.169G>A (p.Glu57Lys) rs139552324 0.00001
NM_000742.4(CHRNA2):c.212A>G (p.Asn71Ser) rs79290097 0.00001
NM_000742.4(CHRNA2):c.307C>A (p.Gln103Lys) rs796052296 0.00001
NM_000742.4(CHRNA2):c.320C>G (p.Thr107Ser) rs1320480004 0.00001
NM_000742.4(CHRNA2):c.322A>G (p.Asn108Asp) rs913563840 0.00001
NM_000742.4(CHRNA2):c.347G>T (p.Ser116Ile) rs541282922 0.00001
NM_000742.4(CHRNA2):c.402G>C (p.Arg134Ser) rs773956983 0.00001
NM_000742.4(CHRNA2):c.431A>G (p.Asp144Gly) rs748032811 0.00001
NM_000742.4(CHRNA2):c.433A>G (p.Ile145Val) rs1064795580 0.00001
NM_000742.4(CHRNA2):c.503C>T (p.Thr168Met) rs766076722 0.00001
NM_000742.4(CHRNA2):c.568T>C (p.Phe190Leu) rs752751788 0.00001
NM_000742.4(CHRNA2):c.576C>T (p.Phe192=) rs148009259 0.00001
NM_000742.4(CHRNA2):c.577G>A (p.Asp193Asn) rs373358886 0.00001
NM_000742.4(CHRNA2):c.595A>G (p.Met199Val) rs1064793314 0.00001
NM_000742.4(CHRNA2):c.735C>T (p.Tyr245=) rs775595773 0.00001
NM_000742.4(CHRNA2):c.787C>T (p.Arg263Trp) rs376807512 0.00001
NM_000742.4(CHRNA2):c.835A>G (p.Ile279Val) rs1812595253 0.00001
NM_000742.4(CHRNA2):c.873C>T (p.Ser291=) rs76140563 0.00001
NM_000742.4(CHRNA2):c.990G>A (p.Glu330=) rs769608818 0.00001
NC_000008.11:g.27479265_27479274del rs1349833594
NM_000742.3(CHRNA2):c.-578_-573delATGTGT rs1554517016
NM_000742.3(CHRNA2):c.-581_-578delTGTA rs1554517018
NM_000742.4(CHRNA2):c.-27C>A rs1029528073
NM_000742.4(CHRNA2):c.-562GA[8] rs150699126
NM_000742.4(CHRNA2):c.1039G>A (p.Val347Ile) rs1057524196
NM_000742.4(CHRNA2):c.1045G>C (p.Val349Leu) rs774279507
NM_000742.4(CHRNA2):c.1055T>C (p.Val352Ala) rs1554514453
NM_000742.4(CHRNA2):c.1068C>A (p.Ser356=) rs745774113
NM_000742.4(CHRNA2):c.1084A>T (p.Met362Leu) rs796052301
NM_000742.4(CHRNA2):c.1118G>C (p.Cys373Ser) rs768424025
NM_000742.4(CHRNA2):c.1126C>T (p.Arg376Trp) rs1018084204
NM_000742.4(CHRNA2):c.1148C>T (p.Pro383Leu) rs796052302
NM_000742.4(CHRNA2):c.121del (p.Leu41fs) rs796052310
NM_000742.4(CHRNA2):c.1251GGA[3] (p.Glu420del) rs1468008473
NM_000742.4(CHRNA2):c.1260G>A (p.Glu420=) rs1057522280
NM_000742.4(CHRNA2):c.1262A>G (p.Asp421Gly) rs1064795452
NM_000742.4(CHRNA2):c.1293dup (p.Ser432fs) rs751842443
NM_000742.4(CHRNA2):c.1294T>G (p.Ser432Ala) rs2132650731
NM_000742.4(CHRNA2):c.1299_1311dup (p.Ser438fs) rs2132650645
NM_000742.4(CHRNA2):c.1354G>A (p.Glu452Lys) rs778197366
NM_000742.4(CHRNA2):c.1362G>A (p.Leu454=)
NM_000742.4(CHRNA2):c.137C>T (p.Pro46Leu) rs748345482
NM_000742.4(CHRNA2):c.1385T>C (p.Leu462Pro) rs377612702
NM_000742.4(CHRNA2):c.1393del (p.His465fs) rs1394301488
NM_000742.4(CHRNA2):c.1426A>C (p.Ile476Leu) rs796052304
NM_000742.4(CHRNA2):c.1431C>G (p.Ala477=) rs373912586
NM_000742.4(CHRNA2):c.1432G>C (p.Asp478His) rs141072985
NM_000742.4(CHRNA2):c.1437C>G (p.His479Gln) rs374849310
NM_000742.4(CHRNA2):c.1444T>C (p.Ser482Pro) rs2132650030
NM_000742.4(CHRNA2):c.1464+260G>A rs71519636
NM_000742.4(CHRNA2):c.1479_1482dup (p.Tyr495fs)
NM_000742.4(CHRNA2):c.1483T>C (p.Tyr495His)
NM_000742.4(CHRNA2):c.149C>T (p.Pro50Leu) rs146763552
NM_000742.4(CHRNA2):c.150G>A (p.Pro50=) rs758848783
NM_000742.4(CHRNA2):c.1531G>C (p.Val511Leu) rs796052306
NM_000742.4(CHRNA2):c.1568C>T (p.Pro523Leu) rs145238683
NM_000742.4(CHRNA2):c.215G>A (p.Arg72His) rs201922955
NM_000742.4(CHRNA2):c.215G>C (p.Arg72Pro) rs201922955
NM_000742.4(CHRNA2):c.215G>T (p.Arg72Leu) rs201922955
NM_000742.4(CHRNA2):c.221C>T (p.Ala74Val) rs759595350
NM_000742.4(CHRNA2):c.225C>A (p.Arg75=) rs371737919
NM_000742.4(CHRNA2):c.225C>T (p.Arg75=) rs371737919
NM_000742.4(CHRNA2):c.24C>T (p.Phe8=) rs757567429
NM_000742.4(CHRNA2):c.286A>T (p.Ile96Phe) rs149615415
NM_000742.4(CHRNA2):c.294+1G>A rs1064795899
NM_000742.4(CHRNA2):c.295-16_295-7dup rs776047724
NM_000742.4(CHRNA2):c.305A>G (p.Asn102Ser) rs2132665924
NM_000742.4(CHRNA2):c.321C>T (p.Thr107=) rs886044444
NM_000742.4(CHRNA2):c.339+12_339+13del rs139680977
NM_000742.4(CHRNA2):c.339+13del rs139680977
NM_000742.4(CHRNA2):c.361C>A (p.Arg121Ser) rs746274421
NM_000742.4(CHRNA2):c.411del (p.Glu138fs)
NM_000742.4(CHRNA2):c.422G>A (p.Trp141Ter)
NM_000742.4(CHRNA2):c.444CAA[1] (p.Asn150del) rs758217117
NM_000742.4(CHRNA2):c.450-2A>C rs777966258
NM_000742.4(CHRNA2):c.450-87C>G rs3735757
NM_000742.4(CHRNA2):c.527C>A (p.Pro176Gln) rs769273715
NM_000742.4(CHRNA2):c.529G>C (p.Ala177Pro) rs796052298
NM_000742.4(CHRNA2):c.572_573delinsTT (p.Pro191Leu) rs2132654200
NM_000742.4(CHRNA2):c.577G>T (p.Asp193Tyr)
NM_000742.4(CHRNA2):c.589T>C (p.Cys197Arg) rs1554514597
NM_000742.4(CHRNA2):c.590G>T (p.Cys197Phe) rs796052299
NM_000742.4(CHRNA2):c.634G>A (p.Asp212Asn) rs760660239
NM_000742.4(CHRNA2):c.636C>A (p.Asp212Glu) rs775471233
NM_000742.4(CHRNA2):c.647T>C (p.Met216Thr)
NM_000742.4(CHRNA2):c.676T>A (p.Trp226Arg)
NM_000742.4(CHRNA2):c.685G>A (p.Gly229Ser)
NM_000742.4(CHRNA2):c.699C>T (p.Ile233=) rs1321895505
NM_000742.4(CHRNA2):c.718T>C (p.Tyr240His)
NM_000742.4(CHRNA2):c.725G>A (p.Ser242Asn) rs796052300
NM_000742.4(CHRNA2):c.73+5G>A
NM_000742.4(CHRNA2):c.74-341C>A rs2565063
NM_000742.4(CHRNA2):c.824C>T (p.Pro275Leu)
NM_000742.4(CHRNA2):c.859_862delinsC (p.Phe287_Tyr288delinsHis) rs1554514518
NM_000742.4(CHRNA2):c.937C>T (p.Leu313Phe)
NM_000742.4(CHRNA2):c.959C>A (p.Ser320Tyr) rs760884840
NM_000742.4(CHRNA2):c.970G>A (p.Val324Ile)
NM_000742.4(CHRNA2):c.971T>A (p.Val324Asp)
NM_000742.4(CHRNA2):c.993C>G (p.Tyr331Ter) rs143360318

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