ClinVar Miner

List of variants in gene CHRNA1 studied for congenital limb malformation

Included ClinVar conditions (335):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 381
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HGVS dbSNP gnomAD frequency
NM_000079.4(CHRNA1):c.235-385C>T rs2646164 0.99734
NM_000079.4(CHRNA1):c.1003-53A>G rs2646159 0.87287
NM_001039523.2(CHRNA1):c.-478A>G rs16862847 0.13301
NM_000079.4(CHRNA1):c.960C>T (p.His320=) rs2229957 0.08849
NM_000079.4(CHRNA1):c.1073A>T (p.Asp358Val) rs6739001 0.02064
NM_000079.4(CHRNA1):c.540+4G>C rs112674580 0.01914
NM_000079.4(CHRNA1):c.*426C>A rs115375214 0.00774
NM_000079.4(CHRNA1):c.*218C>T rs79539026 0.00579
NM_000079.4(CHRNA1):c.1233G>T (p.Glu411Asp) rs61737716 0.00561
NM_000079.4(CHRNA1):c.*499A>T rs574135903 0.00488
NM_000079.4(CHRNA1):c.643G>A (p.Asp215Asn) rs148304857 0.00413
NM_000079.4(CHRNA1):c.655C>T (p.Leu219=) rs150638770 0.00220
NM_000079.4(CHRNA1):c.-37A>G rs182459320 0.00217
NM_000079.4(CHRNA1):c.621C>T (p.Ser207=) rs74533173 0.00185
NM_000079.4(CHRNA1):c.*461A>T rs542750994 0.00179
NM_000079.4(CHRNA1):c.1139T>C (p.Met380Thr) rs149292107 0.00079
NM_000079.4(CHRNA1):c.189+12G>A rs201168898 0.00075
NM_000079.4(CHRNA1):c.224G>A (p.Arg75His) rs147488907 0.00069
NM_000079.4(CHRNA1):c.1064A>G (p.Glu355Gly) rs144533405 0.00065
NM_000079.4(CHRNA1):c.*411G>A rs560280191 0.00057
NM_000079.4(CHRNA1):c.1293C>T (p.Leu431=) rs146899588 0.00054
NM_000079.4(CHRNA1):c.779-12_779-11del rs1491478953 0.00039
NM_000079.4(CHRNA1):c.780G>A (p.Gly260=) rs148502695 0.00036
NM_000079.4(CHRNA1):c.1247C>T (p.Ala416Val) rs367751078 0.00026
NM_000079.4(CHRNA1):c.*383T>C rs768887652 0.00025
NM_000079.4(CHRNA1):c.861G>A (p.Thr287=) rs144020157 0.00022
NM_000079.4(CHRNA1):c.319C>T (p.Arg107Cys) rs140268343 0.00021
NM_000079.4(CHRNA1):c.513C>T (p.Tyr171=) rs762327875 0.00021
NM_000079.4(CHRNA1):c.1294G>A (p.Gly432Arg) rs151081792 0.00020
NM_000079.4(CHRNA1):c.805G>C (p.Val269Leu) rs137852803 0.00020
NM_000079.4(CHRNA1):c.1067A>C (p.Lys356Thr) rs146863119 0.00019
NM_000079.4(CHRNA1):c.*101C>T rs867744338 0.00016
NM_000079.4(CHRNA1):c.945C>T (p.Val315=) rs371524795 0.00016
NM_000079.4(CHRNA1):c.324A>C (p.Pro108=) rs199555685 0.00014
NM_000079.4(CHRNA1):c.547G>A (p.Asp183Asn) rs145421881 0.00014
NM_000079.4(CHRNA1):c.1184C>T (p.Ala395Val) rs768878508 0.00013
NM_000079.4(CHRNA1):c.1333G>A (p.Val445Met) rs372104868 0.00013
NM_000079.4(CHRNA1):c.320G>A (p.Arg107His) rs376844505 0.00012
NM_000079.4(CHRNA1):c.1002+9G>A rs368959759 0.00011
NM_000079.4(CHRNA1):c.189+18G>A rs201082834 0.00011
NM_000079.4(CHRNA1):c.948C>A (p.Ile316=) rs141733086 0.00011
NM_000079.4(CHRNA1):c.190-18C>T rs769989280 0.00010
NM_000079.4(CHRNA1):c.546C>T (p.Ser182=) rs749002411 0.00010
NM_000079.4(CHRNA1):c.372G>A (p.Lys124=) rs143047599 0.00009
NM_000079.4(CHRNA1):c.657G>C (p.Leu219=) rs375856493 0.00009
NM_000079.4(CHRNA1):c.525C>T (p.Val175=) rs186421442 0.00008
NM_000079.4(CHRNA1):c.723C>T (p.Pro241=) rs189442556 0.00008
NM_000079.4(CHRNA1):c.813G>A (p.Leu271=) rs374093236 0.00007
NM_000079.4(CHRNA1):c.*358C>T rs886055147 0.00006
NM_000079.4(CHRNA1):c.1199A>G (p.Lys400Arg) rs137916282 0.00006
NM_000079.4(CHRNA1):c.1242+10G>A rs758078454 0.00006
NM_000079.4(CHRNA1):c.280G>T (p.Gly94Cys) rs199470444 0.00006
NM_000079.4(CHRNA1):c.541-15del rs748211851 0.00006
NM_000079.4(CHRNA1):c.64G>A (p.Glu22Lys) rs368979094 0.00006
NM_000079.4(CHRNA1):c.676G>A (p.Val226Ile) rs200102479 0.00006
NM_000079.4(CHRNA1):c.927C>A (p.Ile309=) rs758834482 0.00006
NM_000079.4(CHRNA1):c.955C>T (p.His319Tyr) rs150110639 0.00006
NM_000079.4(CHRNA1):c.112G>A (p.Val38Met) rs569049580 0.00005
NM_000079.4(CHRNA1):c.575A>G (p.Glu192Gly) rs746009147 0.00005
NM_000079.4(CHRNA1):c.63C>T (p.Ser21=) rs751313425 0.00005
NM_000079.4(CHRNA1):c.111C>T (p.Ser37=) rs886055151 0.00004
NM_000079.4(CHRNA1):c.1321G>A (p.Gly441Arg) rs768407867 0.00004
NM_000079.4(CHRNA1):c.137G>A (p.Arg46His) rs149851833 0.00004
NM_000079.4(CHRNA1):c.144C>T (p.Val48=) rs766106058 0.00004
NM_000079.4(CHRNA1):c.189+16T>A rs1419917128 0.00004
NM_000079.4(CHRNA1):c.235-18G>A rs1162280178 0.00004
NM_000079.4(CHRNA1):c.345-10C>T rs775001526 0.00004
NM_000079.4(CHRNA1):c.536A>G (p.Asn179Ser) rs772271812 0.00004
NM_000079.4(CHRNA1):c.675C>T (p.Phe225=) rs531534298 0.00004
NM_000079.4(CHRNA1):c.750C>T (p.Gly250=) rs186607397 0.00004
NM_000079.4(CHRNA1):c.76C>T (p.Arg26Cys) rs536229089 0.00004
NM_000079.4(CHRNA1):c.77G>A (p.Arg26His) rs777813669 0.00004
NM_000079.4(CHRNA1):c.1088C>T (p.Thr363Ile) rs146771663 0.00003
NM_000079.4(CHRNA1):c.1242T>G (p.Asn414Lys) rs199545638 0.00003
NM_000079.4(CHRNA1):c.1320C>T (p.Ile440=) rs776420240 0.00003
NM_000079.4(CHRNA1):c.1A>G (p.Met1Val) rs146464862 0.00003
NM_000079.4(CHRNA1):c.410C>T (p.Thr137Met) rs780391418 0.00003
NM_000079.4(CHRNA1):c.488G>C (p.Ser163Thr) rs375645058 0.00003
NM_000079.4(CHRNA1):c.801C>T (p.Ile267=) rs1397059147 0.00003
NM_000079.4(CHRNA1):c.912C>T (p.Phe304=) rs373005571 0.00003
NM_000079.4(CHRNA1):c.935C>A (p.Thr312Asn) rs746404398 0.00003
NM_000079.4(CHRNA1):c.*310C>T rs1453724345 0.00002
NM_000079.4(CHRNA1):c.1162A>C (p.Lys388Gln) rs202090282 0.00002
NM_000079.4(CHRNA1):c.1171G>A (p.Glu391Lys) rs762411124 0.00002
NM_000079.4(CHRNA1):c.1329A>T (p.Leu443=) rs779379425 0.00002
NM_000079.4(CHRNA1):c.145G>A (p.Val49Met) rs1019158028 0.00002
NM_000079.4(CHRNA1):c.539C>T (p.Pro180Leu) rs373561258 0.00002
NM_000079.4(CHRNA1):c.605G>A (p.Arg202Gln) rs769337073 0.00002
NM_000079.4(CHRNA1):c.841G>A (p.Val281Met) rs764265345 0.00002
NM_000079.4(CHRNA1):c.895C>T (p.Leu299=) rs768256648 0.00002
NM_000079.4(CHRNA1):c.919G>A (p.Ala307Thr) rs550013897 0.00002
NM_000079.4(CHRNA1):c.942C>T (p.Ile314=) rs200535960 0.00002
NM_000079.4(CHRNA1):c.962G>A (p.Arg321His) rs762938254 0.00002
NM_000079.4(CHRNA1):c.*414T>A rs886055146 0.00001
NM_000079.4(CHRNA1):c.1002+17C>G rs777724002 0.00001
NM_000079.4(CHRNA1):c.1003-9T>C rs769523120 0.00001
NM_000079.4(CHRNA1):c.1006T>G (p.Phe336Val) rs755304714 0.00001
NM_000079.4(CHRNA1):c.102C>A (p.Asp34Glu) rs377254749 0.00001
NM_000079.4(CHRNA1):c.1045A>G (p.Met349Val) rs760175390 0.00001
NM_000079.4(CHRNA1):c.1097T>C (p.Ile366Thr) rs942359952 0.00001
NM_000079.4(CHRNA1):c.1143C>T (p.Gly381=) rs767048858 0.00001
NM_000079.4(CHRNA1):c.1182T>A (p.Ser394Arg) rs776811077 0.00001
NM_000079.4(CHRNA1):c.118C>T (p.Arg40Trp) rs774423842 0.00001
NM_000079.4(CHRNA1):c.119G>A (p.Arg40Gln) rs1180739514 0.00001
NM_000079.4(CHRNA1):c.1244C>T (p.Ala415Val) rs200394375 0.00001
NM_000079.4(CHRNA1):c.1245G>A (p.Ala415=) rs372181669 0.00001
NM_000079.4(CHRNA1):c.124G>T (p.Val42Leu) rs1376655390 0.00001
NM_000079.4(CHRNA1):c.1254G>A (p.Glu418=) rs1553541913 0.00001
NM_000079.4(CHRNA1):c.1264G>A (p.Val422Ile) rs754320308 0.00001
NM_000079.4(CHRNA1):c.1269A>G (p.Ala423=) rs761249168 0.00001
NM_000079.4(CHRNA1):c.1288C>T (p.Leu430Phe) rs759664482 0.00001
NM_000079.4(CHRNA1):c.1314C>T (p.Cys438=) rs137852808 0.00001
NM_000079.4(CHRNA1):c.1318A>G (p.Ile440Val) rs1479795714 0.00001
NM_000079.4(CHRNA1):c.1332C>T (p.Ala444=) rs771587252 0.00001
NM_000079.4(CHRNA1):c.157G>A (p.Val53Met) rs779877755 0.00001
NM_000079.4(CHRNA1):c.175C>T (p.Gln59Ter) rs750329103 0.00001
NM_000079.4(CHRNA1):c.177G>C (p.Gln59His) rs199899006 0.00001
NM_000079.4(CHRNA1):c.265C>G (p.Pro89Ala) rs912456299 0.00001
NM_000079.4(CHRNA1):c.267A>G (p.Pro89=) rs886055150 0.00001
NM_000079.4(CHRNA1):c.270T>C (p.Asp90=) rs746590795 0.00001
NM_000079.4(CHRNA1):c.2T>C (p.Met1Thr) rs779169597 0.00001
NM_000079.4(CHRNA1):c.314T>C (p.Ile105Thr) rs764809207 0.00001
NM_000079.4(CHRNA1):c.327C>T (p.Asp109=) rs1684006081 0.00001
NM_000079.4(CHRNA1):c.330T>C (p.Leu110=) rs763984762 0.00001
NM_000079.4(CHRNA1):c.344+12G>C rs774924187 0.00001
NM_000079.4(CHRNA1):c.344+6C>A rs1438960872 0.00001
NM_000079.4(CHRNA1):c.345-14T>A rs776569258 0.00001
NM_000079.4(CHRNA1):c.35T>C (p.Leu12Pro) rs765824911 0.00001
NM_000079.4(CHRNA1):c.418C>T (p.Pro140Ser) rs1235810008 0.00001
NM_000079.4(CHRNA1):c.439T>C (p.Tyr147His) rs1224199250 0.00001
NM_000079.4(CHRNA1):c.449T>G (p.Ile150Ser) rs1040313532 0.00001
NM_000079.4(CHRNA1):c.450C>G (p.Ile150Met) rs200163630 0.00001
NM_000079.4(CHRNA1):c.453C>T (p.Ile151=) rs372122272 0.00001
NM_000079.4(CHRNA1):c.454G>A (p.Val152Ile) rs137852807 0.00001
NM_000079.4(CHRNA1):c.514G>A (p.Asp172Asn) rs1232135247 0.00001
NM_000079.4(CHRNA1):c.51C>T (p.Leu17=) rs751402231 0.00001
NM_000079.4(CHRNA1):c.526G>A (p.Val176Met) rs137852799 0.00001
NM_000079.4(CHRNA1):c.579C>T (p.Ser193=) rs534185815 0.00001
NM_000079.4(CHRNA1):c.580G>A (p.Gly194Arg) rs201147926 0.00001
NM_000079.4(CHRNA1):c.594C>G (p.Ile198Met) rs1054392349 0.00001
NM_000079.4(CHRNA1):c.642C>T (p.Pro214=) rs757027133 0.00001
NM_000079.4(CHRNA1):c.685C>T (p.Arg229Cys) rs745355427 0.00001
NM_000079.4(CHRNA1):c.706G>A (p.Val236Ile) rs1332781017 0.00001
NM_000079.4(CHRNA1):c.711C>T (p.Asn237=) rs137852798 0.00001
NM_000079.4(CHRNA1):c.735C>T (p.Phe245=) rs773397465 0.00001
NM_000079.4(CHRNA1):c.749G>A (p.Gly250Asp) rs1261346012 0.00001
NM_000079.4(CHRNA1):c.778+18G>A rs375471139 0.00001
NM_000079.4(CHRNA1):c.779-1_779insA rs771260711 0.00001
NM_000079.4(CHRNA1):c.838A>G (p.Ile280Val) rs1184577812 0.00001
NM_000079.4(CHRNA1):c.840C>T (p.Ile280=) rs754070026 0.00001
NM_000079.4(CHRNA1):c.860C>T (p.Thr287Met) rs370345788 0.00001
NM_000079.4(CHRNA1):c.924C>T (p.Ser308=) rs1175922060 0.00001
NM_000079.4(CHRNA1):c.997C>T (p.Arg333Trp) rs374391312 0.00001
NC_000002.11:g.(?_175612832)_(175619162_?)del
NC_000002.11:g.(?_175612852)_(175629122_?)del
NM_000079.4(CHRNA1):c.*130A>T rs1683764773
NM_000079.4(CHRNA1):c.*275A>G rs886055148
NM_000079.4(CHRNA1):c.*288G>A rs564090863
NM_000079.4(CHRNA1):c.*422G>T rs184095877
NM_000079.4(CHRNA1):c.*466G>C rs544906046
NM_000079.4(CHRNA1):c.1002+10G>C
NM_000079.4(CHRNA1):c.1002+14C>G
NM_000079.4(CHRNA1):c.1002+14C>T
NM_000079.4(CHRNA1):c.1002+5del
NM_000079.4(CHRNA1):c.1002G>A (p.Lys334=)
NM_000079.4(CHRNA1):c.1003-10T>A rs2105344468
NM_000079.4(CHRNA1):c.1003-12T>A rs771405347
NM_000079.4(CHRNA1):c.1003-12_1003-8del rs1251304590
NM_000079.4(CHRNA1):c.1003-3T>C rs1683789512
NM_000079.4(CHRNA1):c.1003-6T>C
NM_000079.4(CHRNA1):c.1003-8T>C rs1683789605
NM_000079.4(CHRNA1):c.1003-8dup
NM_000079.4(CHRNA1):c.1003-9T>A rs769523120
NM_000079.4(CHRNA1):c.1011C>T (p.Ile337=)
NM_000079.4(CHRNA1):c.1012G>C (p.Asp338His)
NM_000079.4(CHRNA1):c.1016C>T (p.Thr339Ile)
NM_000079.4(CHRNA1):c.1021C>T (p.Pro341Ser) rs2105344415
NM_000079.4(CHRNA1):c.103T>G (p.Tyr35Asp) rs1558914914
NM_000079.4(CHRNA1):c.1040C>G (p.Ser347Cys) rs1683788656
NM_000079.4(CHRNA1):c.1047G>A (p.Met349Ile) rs1683788450
NM_000079.4(CHRNA1):c.1048A>C (p.Lys350Gln) rs1683788396
NM_000079.4(CHRNA1):c.1053A>C (p.Arg351Ser) rs2105344397
NM_000079.4(CHRNA1):c.1055C>T (p.Pro352Leu)
NM_000079.4(CHRNA1):c.1058C>A (p.Ser353Tyr) rs1574002549
NM_000079.4(CHRNA1):c.1068G>A (p.Lys356=)
NM_000079.4(CHRNA1):c.1071A>G (p.Gln357=)
NM_000079.4(CHRNA1):c.1079del (p.Lys360fs) rs768863116
NM_000079.4(CHRNA1):c.1079dup (p.Ile361fs)
NM_000079.4(CHRNA1):c.1088C>G (p.Thr363Arg) rs146771663
NM_000079.4(CHRNA1):c.1123C>T (p.Pro375Ser)
NM_000079.4(CHRNA1):c.1128G>T (p.Gly376=)
NM_000079.4(CHRNA1):c.1130C>G (p.Pro377Arg)
NM_000079.4(CHRNA1):c.1137C>T (p.Pro379=)
NM_000079.4(CHRNA1):c.1151C>T (p.Ser384Phe)
NM_000079.4(CHRNA1):c.1170C>G (p.Pro390=) rs141280544
NM_000079.4(CHRNA1):c.1170C>T (p.Pro390=)
NM_000079.4(CHRNA1):c.117_133dup (p.His45fs)
NM_000079.4(CHRNA1):c.1189G>A (p.Glu397Lys)
NM_000079.4(CHRNA1):c.118C>A (p.Arg40=) rs774423842
NM_000079.4(CHRNA1):c.1194C>A (p.Gly398=) rs1683784412
NM_000079.4(CHRNA1):c.1196T>C (p.Ile399Thr)
NM_000079.4(CHRNA1):c.1206C>A (p.Ile402=)
NM_000079.4(CHRNA1):c.1206C>T (p.Ile402=)
NM_000079.4(CHRNA1):c.1215C>A (p.Thr405=)
NM_000079.4(CHRNA1):c.1221G>T (p.Lys407Asn) rs1291588996
NM_000079.4(CHRNA1):c.1231G>A (p.Glu411Lys)
NM_000079.4(CHRNA1):c.1242+11T>A
NM_000079.4(CHRNA1):c.1242+17G>A
NM_000079.4(CHRNA1):c.1243-3C>T rs1574002055
NM_000079.4(CHRNA1):c.1243-7C>T
NM_000079.4(CHRNA1):c.1245G>C (p.Ala415=)
NM_000079.4(CHRNA1):c.1248G>A (p.Ala416=) rs17838545
NM_000079.4(CHRNA1):c.1248G>T (p.Ala416=)
NM_000079.4(CHRNA1):c.1255T>A (p.Trp419Arg) rs61731797
NM_000079.4(CHRNA1):c.1262A>G (p.Tyr421Cys)
NM_000079.4(CHRNA1):c.1263C>T (p.Tyr421=)
NM_000079.4(CHRNA1):c.1266T>A (p.Val422=) rs764451540
NM_000079.4(CHRNA1):c.1267G>A (p.Ala423Thr)
NM_000079.4(CHRNA1):c.1282C>A (p.His428Asn)
NM_000079.4(CHRNA1):c.1284C>T (p.His428=) rs1173467478
NM_000079.4(CHRNA1):c.1307T>C (p.Leu436Pro)
NM_000079.4(CHRNA1):c.1334T>A (p.Val445Glu) rs1304235259
NM_000079.4(CHRNA1):c.1343G>A (p.Gly448Asp)
NM_000079.4(CHRNA1):c.1345C>T (p.Arg449Ter) rs1345496434
NM_000079.4(CHRNA1):c.1348C>T (p.Leu450Phe)
NM_000079.4(CHRNA1):c.136C>G (p.Arg46Gly)
NM_000079.4(CHRNA1):c.136C>T (p.Arg46Cys)
NM_000079.4(CHRNA1):c.13C>T (p.Pro5Ser) rs567683036
NM_000079.4(CHRNA1):c.141G>A (p.Gln47=)
NM_000079.4(CHRNA1):c.14C>G (p.Pro5Arg)
NM_000079.4(CHRNA1):c.150G>T (p.Glu50Asp)
NM_000079.4(CHRNA1):c.155C>T (p.Thr52Ile)
NM_000079.4(CHRNA1):c.181A>C (p.Ile61Leu) rs1574011516
NM_000079.4(CHRNA1):c.189+4A>T rs1684049743
NM_000079.4(CHRNA1):c.189+7_189+8insCCT rs1348568801
NM_000079.4(CHRNA1):c.18C>T (p.Leu6=)
NM_000079.4(CHRNA1):c.190-12T>A
NM_000079.4(CHRNA1):c.190-13dup rs34695580
NM_000079.4(CHRNA1):c.190-5del rs34695580
NM_000079.4(CHRNA1):c.191A>C (p.Asp64Ala)
NM_000079.4(CHRNA1):c.196G>A (p.Val66Ile)
NM_000079.4(CHRNA1):c.218A>C (p.Asn73Thr) rs141121555
NM_000079.4(CHRNA1):c.222del (p.Arg75fs)
NM_000079.4(CHRNA1):c.235-14G>A
NM_000079.4(CHRNA1):c.235-19T>C rs1287601157
NM_000079.4(CHRNA1):c.235-20C>T
NM_000079.4(CHRNA1):c.235-8G>T
NM_000079.4(CHRNA1):c.235-9dup rs1558913982
NM_000079.4(CHRNA1):c.23T>C (p.Leu8Pro)
NM_000079.4(CHRNA1):c.249C>A (p.Tyr83Ter) rs1684009556
NM_000079.4(CHRNA1):c.254T>C (p.Leu85Pro) rs2105350715
NM_000079.4(CHRNA1):c.271G>A (p.Asp91Asn) rs1684008469
NM_000079.4(CHRNA1):c.273C>G (p.Asp91Glu) rs1684008402
NM_000079.4(CHRNA1):c.274T>A (p.Tyr92Asn)
NM_000079.4(CHRNA1):c.279C>G (p.Gly93=)
NM_000079.4(CHRNA1):c.279C>T (p.Gly93=) rs771749641
NM_000079.4(CHRNA1):c.280G>A (p.Gly94Ser) rs199470444
NM_000079.4(CHRNA1):c.283G>A (p.Val95Met) rs757698567
NM_000079.4(CHRNA1):c.284T>A (p.Val95Glu)
NM_000079.4(CHRNA1):c.292dup (p.Ile98fs) rs753250273
NM_000079.4(CHRNA1):c.298A>T (p.Ile100Phe) rs752761320
NM_000079.4(CHRNA1):c.303T>C (p.Pro101=) rs2105350637
NM_000079.4(CHRNA1):c.310A>G (p.Lys104Glu)
NM_000079.4(CHRNA1):c.320G>T (p.Arg107Leu) rs376844505
NM_000079.4(CHRNA1):c.344+14A>G rs1458805086
NM_000079.4(CHRNA1):c.344+15T>C
NM_000079.4(CHRNA1):c.344+17G>C
NM_000079.4(CHRNA1):c.345-19T>A rs572077048
NM_000079.4(CHRNA1):c.345-3T>C
NM_000079.4(CHRNA1):c.345-63_403del
NM_000079.4(CHRNA1):c.345-7A>G rs759145005
NM_000079.4(CHRNA1):c.345-7del
NM_000079.4(CHRNA1):c.348A>C (p.Ala116=)
NM_000079.4(CHRNA1):c.357C>G (p.Asp119Glu) rs773509048
NM_000079.4(CHRNA1):c.361G>A (p.Ala121Thr)
NM_000079.4(CHRNA1):c.370A>T (p.Lys124Ter) rs1683929269
NM_000079.4(CHRNA1):c.376A>G (p.Thr126Ala)
NM_000079.4(CHRNA1):c.383T>G (p.Val128Gly) rs1553469444
NM_000079.4(CHRNA1):c.387C>T (p.Leu129=)
NM_000079.4(CHRNA1):c.399T>A (p.Thr133=) rs1443518305
NM_000079.4(CHRNA1):c.411G>A (p.Thr137=)
NM_000079.4(CHRNA1):c.416C>T (p.Thr139Ile)
NM_000079.4(CHRNA1):c.419C>T (p.Pro140Leu) rs1486937748
NM_000079.4(CHRNA1):c.424G>T (p.Ala142Ser)
NM_000079.4(CHRNA1):c.43+11G>A
NM_000079.4(CHRNA1):c.43+20G>T
NM_000079.4(CHRNA1):c.43+59G>T rs7560774
NM_000079.4(CHRNA1):c.431T>C (p.Phe144Ser)
NM_000079.4(CHRNA1):c.435A>T (p.Lys145Asn)
NM_000079.4(CHRNA1):c.44-10G>T rs2105352253
NM_000079.4(CHRNA1):c.44-1G>A
NM_000079.4(CHRNA1):c.44-5C>G rs2105352241
NM_000079.4(CHRNA1):c.44-9C>A rs2105352249
NM_000079.4(CHRNA1):c.451A>G (p.Ile151Val)
NM_000079.4(CHRNA1):c.451A>T (p.Ile151Phe) rs560121316
NM_000079.4(CHRNA1):c.459C>T (p.Thr153=)
NM_000079.4(CHRNA1):c.460C>T (p.His154Tyr) rs1161547381
NM_000079.4(CHRNA1):c.463T>C (p.Phe155Leu)
NM_000079.4(CHRNA1):c.484T>A (p.Cys162Ser)
NM_000079.4(CHRNA1):c.484T>C (p.Cys162Arg) rs773556274
NM_000079.4(CHRNA1):c.510C>G (p.Thr170=)
NM_000079.4(CHRNA1):c.516C>T (p.Asp172=)
NM_000079.4(CHRNA1):c.517G>A (p.Gly173Ser) rs137852801
NM_000079.4(CHRNA1):c.518dup (p.Ser174fs) rs1064793397
NM_000079.4(CHRNA1):c.52G>A (p.Val18Ile) rs202221890
NM_000079.4(CHRNA1):c.52G>C (p.Val18Leu) rs202221890
NM_000079.4(CHRNA1):c.530C>A (p.Ala177Asp) rs1487449348
NM_000079.4(CHRNA1):c.530C>T (p.Ala177Val)
NM_000079.4(CHRNA1):c.540+16A>C
NM_000079.4(CHRNA1):c.540+17T>A
NM_000079.4(CHRNA1):c.540G>A (p.Pro180=)
NM_000079.4(CHRNA1):c.541-12T>C rs1193318305
NM_000079.4(CHRNA1):c.541-13C>T
NM_000079.4(CHRNA1):c.541-17del
NM_000079.4(CHRNA1):c.548A>C (p.Asp183Ala) rs1444098674
NM_000079.4(CHRNA1):c.548A>T (p.Asp183Val) rs1444098674
NM_000079.4(CHRNA1):c.556G>C (p.Asp186His)
NM_000079.4(CHRNA1):c.556G>T (p.Asp186Tyr)
NM_000079.4(CHRNA1):c.561G>A (p.Leu187=)
NM_000079.4(CHRNA1):c.561G>C (p.Leu187=)
NM_000079.4(CHRNA1):c.562A>C (p.Ser188Arg) rs1683909326
NM_000079.4(CHRNA1):c.581G>A (p.Gly194Glu)
NM_000079.4(CHRNA1):c.585G>A (p.Glu195=)
NM_000079.4(CHRNA1):c.591G>A (p.Val197=)
NM_000079.4(CHRNA1):c.600G>A (p.Glu200=) rs2105347898
NM_000079.4(CHRNA1):c.604C>T (p.Arg202Trp)
NM_000079.4(CHRNA1):c.639C>T (p.Cys213=) rs1574006599
NM_000079.4(CHRNA1):c.640C>T (p.Pro214Ser) rs1574006591
NM_000079.4(CHRNA1):c.648C>G (p.Thr216=) rs759534966
NM_000079.4(CHRNA1):c.648C>T (p.Thr216=) rs759534966
NM_000079.4(CHRNA1):c.653A>C (p.Tyr218Ser) rs1574006535
NM_000079.4(CHRNA1):c.654C>T (p.Tyr218=)
NM_000079.4(CHRNA1):c.661A>G (p.Ile221Val)
NM_000079.4(CHRNA1):c.672C>T (p.His224=) rs1574006465
NM_000079.4(CHRNA1):c.686G>A (p.Arg229His) rs137852809
NM_000079.4(CHRNA1):c.686G>T (p.Arg229Leu) rs137852809
NM_000079.4(CHRNA1):c.705C>A (p.Ile235=) rs143252724
NM_000079.4(CHRNA1):c.708C>T (p.Val236=)
NM_000079.4(CHRNA1):c.70G>A (p.Glu24Lys)
NM_000079.4(CHRNA1):c.711C>A (p.Asn237Lys) rs137852798
NM_000079.4(CHRNA1):c.717C>T (p.Ile239=)
NM_000079.4(CHRNA1):c.737C>T (p.Ser246Phe) rs483353046
NM_000079.4(CHRNA1):c.745A>C (p.Thr249Pro) rs1683900619
NM_000079.4(CHRNA1):c.746C>A (p.Thr249Asn)
NM_000079.4(CHRNA1):c.746C>G (p.Thr249Ser) rs770040016
NM_000079.4(CHRNA1):c.757T>G (p.Phe253Val) rs137852805
NM_000079.4(CHRNA1):c.75C>T (p.Thr25=)
NM_000079.4(CHRNA1):c.769A>G (p.Thr257Ala) rs1558911687
NM_000079.4(CHRNA1):c.778+2T>A
NM_000079.4(CHRNA1):c.778+4G>T
NM_000079.4(CHRNA1):c.779-12del rs67309103
NM_000079.4(CHRNA1):c.779-13_779-12del rs67309103
NM_000079.4(CHRNA1):c.788T>C (p.Met263Thr)
NM_000079.4(CHRNA1):c.795G>A (p.Leu265=)
NM_000079.4(CHRNA1):c.7C>T (p.Pro3Ser) rs1286101751
NM_000079.4(CHRNA1):c.802T>C (p.Ser268Pro) rs1683819520
NM_000079.4(CHRNA1):c.805G>T (p.Val269Phe) rs137852803
NM_000079.4(CHRNA1):c.811C>A (p.Leu271Met)
NM_000079.4(CHRNA1):c.813G>C (p.Leu271=) rs374093236
NM_000079.4(CHRNA1):c.824T>C (p.Val275Ala) rs2105345399
NM_000079.4(CHRNA1):c.827T>C (p.Phe276Ser)
NM_000079.4(CHRNA1):c.828C>T (p.Phe276=) rs1683818752
NM_000079.4(CHRNA1):c.844G>T (p.Glu282Ter) rs1208011631
NM_000079.4(CHRNA1):c.860C>G (p.Thr287Arg)
NM_000079.4(CHRNA1):c.874C>T (p.Pro292Ser)
NM_000079.4(CHRNA1):c.876C>A (p.Pro292=)
NM_000079.4(CHRNA1):c.878T>C (p.Leu293Ser) rs2105345351
NM_000079.4(CHRNA1):c.887A>G (p.Lys296Arg)
NM_000079.4(CHRNA1):c.893T>C (p.Met298Thr) rs1574003598
NM_000079.4(CHRNA1):c.901A>G (p.Thr301Ala) rs1683816643
NM_000079.4(CHRNA1):c.902C>A (p.Thr301Asn) rs2105345315
NM_000079.4(CHRNA1):c.905T>A (p.Met302Lys) rs2105345309
NM_000079.4(CHRNA1):c.923C>T (p.Ser308Phe) rs1553469062
NM_000079.4(CHRNA1):c.925A>C (p.Ile309Leu)
NM_000079.4(CHRNA1):c.943G>A (p.Val315Ile)
NM_000079.4(CHRNA1):c.954A>C (p.Thr318=)
NM_000079.4(CHRNA1):c.978T>A (p.His326Gln) rs1574003456
NM_000079.4(CHRNA1):c.984G>A (p.Met328Ile) rs2105345213
NM_000079.4(CHRNA1):c.989A>G (p.Asn330Ser)
NM_000079.4(CHRNA1):c.997C>G (p.Arg333Gly) rs374391312
NM_000079.4(CHRNA1):c.998G>A (p.Arg333Gln)

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