ClinVar Miner

List of variants reported as uncertain significance for lethal multiple pterygium syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 526
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000079.4(CHRNA1):c.*499A>T rs574135903 0.00488
NM_000751.3(CHRND):c.414C>T (p.Phe138=) rs150208750 0.00265
NM_005199.5(CHRNG):c.*351G>A rs111802317 0.00258
NM_000751.3(CHRND):c.*145C>G rs530039427 0.00216
NM_000751.3(CHRND):c.*942C>T rs571263995 0.00210
NM_000079.4(CHRNA1):c.*461A>T rs542750994 0.00179
NM_005199.5(CHRNG):c.1115C>T (p.Ser372Phe) rs145433186 0.00160
NM_000751.3(CHRND):c.*1189G>C rs556909638 0.00136
NM_005199.5(CHRNG):c.471C>T (p.Phe157=) rs143272752 0.00120
NM_000751.3(CHRND):c.1400G>A (p.Arg467His) rs148939701 0.00096
NM_000751.3(CHRND):c.919C>T (p.Pro307Ser) rs142063328 0.00089
NM_005199.5(CHRNG):c.775G>A (p.Ala259Thr) rs138125827 0.00078
NM_005199.5(CHRNG):c.928A>T (p.Thr310Ser) rs145830034 0.00077
NM_000079.4(CHRNA1):c.224G>A (p.Arg75His) rs147488907 0.00069
NM_005199.5(CHRNG):c.663G>A (p.Ala221=) rs150556220 0.00068
NM_005199.5(CHRNG):c.*207T>C rs147814126 0.00065
NM_000751.3(CHRND):c.1253-9C>T rs2853458 0.00057
NM_005199.5(CHRNG):c.82C>T (p.Arg28Cys) rs140623763 0.00057
NM_000079.4(CHRNA1):c.1293C>T (p.Leu431=) rs146899588 0.00054
NM_000751.3(CHRND):c.*290G>A rs535927511 0.00051
NM_000751.3(CHRND):c.727C>T (p.Arg243Cys) rs201733876 0.00042
NM_005199.5(CHRNG):c.1259C>T (p.Pro420Leu) rs146674765 0.00038
NM_000751.3(CHRND):c.198+14C>T rs199538903 0.00036
NM_005199.5(CHRNG):c.507-12G>A rs184423691 0.00036
NM_000751.3(CHRND):c.1066C>T (p.Pro356Ser) rs147050939 0.00035
NM_000751.3(CHRND):c.*580C>T rs371903548 0.00034
NM_000751.3(CHRND):c.619+4C>A rs367936158 0.00032
NM_005199.5(CHRNG):c.1381G>A (p.Gly461Arg) rs143800157 0.00032
NM_000751.3(CHRND):c.1067C>T (p.Pro356Leu) rs200671975 0.00030
NM_000751.3(CHRND):c.*641C>T rs190008760 0.00029
NM_000079.4(CHRNA1):c.1247C>T (p.Ala416Val) rs367751078 0.00026
NM_000751.3(CHRND):c.*1313G>A rs554703726 0.00026
NM_000751.3(CHRND):c.*1314A>T rs574569801 0.00026
NM_000751.3(CHRND):c.651G>A (p.Pro217=) rs146205427 0.00026
NM_000079.4(CHRNA1):c.*383T>C rs768887652 0.00025
NM_000751.3(CHRND):c.805T>C (p.Tyr269His) rs141627135 0.00025
NM_000751.3(CHRND):c.*379C>T rs552885486 0.00024
NM_000079.4(CHRNA1):c.319C>T (p.Arg107Cys) rs140268343 0.00021
NM_005199.5(CHRNG):c.1075G>A (p.Val359Ile) rs16829208 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_000751.3(CHRND):c.45G>A (p.Ala15=) rs138609765 0.00020
NM_005199.5(CHRNG):c.367G>A (p.Glu123Lys) rs199937736 0.00019
NM_005199.5(CHRNG):c.1118G>A (p.Arg373Gln) rs144755776 0.00018
NM_005199.5(CHRNG):c.426G>A (p.Pro142=) rs375894671 0.00017
NM_000079.4(CHRNA1):c.*101C>T rs867744338 0.00016
NM_005199.5(CHRNG):c.1378A>G (p.Asn460Asp) rs138232636 0.00016
NM_000079.4(CHRNA1):c.547G>A (p.Asp183Asn) rs145421881 0.00014
NM_000751.3(CHRND):c.1367A>G (p.Asn456Ser) rs144433265 0.00014
NM_000751.3(CHRND):c.89G>A (p.Arg30Gln) rs142992853 0.00014
NM_000079.4(CHRNA1):c.1333G>A (p.Val445Met) rs372104868 0.00013
NM_000751.3(CHRND):c.1480T>C (p.Tyr494His) rs368695808 0.00013
NM_000751.3(CHRND):c.305G>A (p.Arg102His) rs147919651 0.00013
NM_000079.4(CHRNA1):c.320G>A (p.Arg107His) rs376844505 0.00012
NM_000751.3(CHRND):c.626G>A (p.Gly209Glu) rs754652646 0.00012
NM_005199.5(CHRNG):c.1421G>A (p.Arg474His) rs16829216 0.00012
NM_005199.5(CHRNG):c.573G>A (p.Glu191=) rs771417982 0.00012
NM_000079.4(CHRNA1):c.1002+9G>A rs368959759 0.00011
NM_000751.3(CHRND):c.128G>A (p.Arg43Gln) rs759448201 0.00010
NM_000751.3(CHRND):c.*635C>T rs747270172 0.00009
NM_000751.3(CHRND):c.480C>T (p.Phe160=) rs200986300 0.00009
NM_000751.3(CHRND):c.525G>A (p.Thr175=) rs56203086 0.00009
NM_005199.5(CHRNG):c.*194G>A rs975418556 0.00009
NM_000751.3(CHRND):c.1531G>A (p.Val511Met) rs759384601 0.00008
NM_000751.3(CHRND):c.411C>T (p.Gly137=) rs373578965 0.00008
NM_005199.5(CHRNG):c.*131C>T rs566877095 0.00008
NM_005199.5(CHRNG):c.*201G>C rs144523413 0.00008
NM_005199.5(CHRNG):c.1012T>C (p.Ser338Pro) rs776733115 0.00008
NM_005199.5(CHRNG):c.129C>T (p.Pro43=) rs151276788 0.00008
NM_005199.5(CHRNG):c.737T>A (p.Ile246Asn) rs139998228 0.00008
NM_000079.4(CHRNA1):c.813G>A (p.Leu271=) rs374093236 0.00007
NM_000751.3(CHRND):c.1126C>T (p.Arg376Trp) rs368819172 0.00007
NM_000751.3(CHRND):c.892C>T (p.Arg298Cys) rs377455260 0.00007
NM_005199.5(CHRNG):c.*126C>T rs369614677 0.00007
NM_005199.5(CHRNG):c.*388G>C rs914603576 0.00007
NM_005199.5(CHRNG):c.130G>A (p.Ala44Thr) rs186589083 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.280G>T (p.Gly94Cys) rs199470444 0.00006
NM_000079.4(CHRNA1):c.955C>T (p.His319Tyr) rs150110639 0.00006
NM_000751.3(CHRND):c.1127G>A (p.Arg376Gln) rs749866545 0.00006
NM_000751.3(CHRND):c.1359C>T (p.Asn453=) rs776972228 0.00006
NM_000751.3(CHRND):c.255C>A (p.Asp85Glu) rs146905561 0.00006
NM_000751.3(CHRND):c.697C>T (p.Arg233Cys) rs144063384 0.00006
NM_000751.3(CHRND):c.80G>A (p.Arg27Gln) rs143002322 0.00006
NM_005199.5(CHRNG):c.1145C>T (p.Ser382Leu) rs774121021 0.00006
NM_005199.5(CHRNG):c.1230G>A (p.Ala410=) rs144948513 0.00006
NM_005199.5(CHRNG):c.806-13C>T rs375760045 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_000751.3(CHRND):c.*1278C>T rs983960063 0.00005
NM_000751.3(CHRND):c.260G>A (p.Arg87Gln) rs201264983 0.00005
NM_000751.3(CHRND):c.442C>T (p.Arg148Cys) rs199984639 0.00005
NM_005199.5(CHRNG):c.1423G>A (p.Val475Ile) rs764228635 0.00005
NM_005199.5(CHRNG):c.913A>G (p.Ile305Val) rs142582718 0.00005
NM_000079.4(CHRNA1):c.111C>T (p.Ser37=) rs886055151 0.00004
NM_000079.4(CHRNA1):c.137G>A (p.Arg46His) rs149851833 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_000751.3(CHRND):c.1204G>A (p.Glu402Lys) rs145955590 0.00004
NM_000751.3(CHRND):c.1252+10C>T rs373581541 0.00004
NM_000751.3(CHRND):c.1253-10T>G rs199508773 0.00004
NM_000751.3(CHRND):c.1319A>T (p.Asp440Val) rs373747090 0.00004
NM_000751.3(CHRND):c.1442T>C (p.Met481Thr) rs777430398 0.00004
NM_000751.3(CHRND):c.160G>A (p.Val54Ile) rs369869476 0.00004
NM_000751.3(CHRND):c.226A>G (p.Asn76Asp) rs200755491 0.00004
NM_000751.3(CHRND):c.920C>T (p.Pro307Leu) rs371376389 0.00004
NM_000751.3(CHRND):c.988G>A (p.Val330Met) rs773972915 0.00004
NM_005199.5(CHRNG):c.357C>T (p.Asp119=) rs749995118 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.1A>G (p.Met1Val) rs146464862 0.00003
NM_000079.4(CHRNA1):c.235-323G>A rs750955953 0.00003
NM_000079.4(CHRNA1):c.410C>T (p.Thr137Met) rs780391418 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_000751.3(CHRND):c.*1032C>T rs886055786 0.00003
NM_000751.3(CHRND):c.*227G>A rs766592644 0.00003
NM_000751.3(CHRND):c.1100A>G (p.Asp367Gly) rs770099656 0.00003
NM_000751.3(CHRND):c.1220G>A (p.Arg407Gln) rs563035306 0.00003
NM_000751.3(CHRND):c.1255C>T (p.Arg419Trp) rs140455307 0.00003
NM_000751.3(CHRND):c.178C>A (p.Leu60Ile) rs200743096 0.00003
NM_000751.3(CHRND):c.646C>T (p.Arg216Trp) rs777271963 0.00003
NM_005199.5(CHRNG):c.*593T>C rs1033983635 0.00003
NM_005199.5(CHRNG):c.*7C>T rs1034629827 0.00003
NM_005199.5(CHRNG):c.239T>C (p.Met80Thr) rs1222999452 0.00003
NM_005199.5(CHRNG):c.330G>A (p.Pro110=) rs149931943 0.00003
NM_005199.5(CHRNG):c.460G>A (p.Val154Ile) rs756232748 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.145G>A (p.Val49Met) rs1019158028 0.00002
NM_000079.4(CHRNA1):c.488G>C (p.Ser163Thr) rs375645058 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.919G>A (p.Ala307Thr) rs550013897 0.00002
NM_000079.4(CHRNA1):c.962G>A (p.Arg321His) rs762938254 0.00002
NM_000751.3(CHRND):c.*342C>T rs1243263595 0.00002
NM_000751.3(CHRND):c.*453T>C rs575492169 0.00002
NM_000751.3(CHRND):c.*969G>A rs1479082913 0.00002
NM_000751.3(CHRND):c.1195C>T (p.Leu399Phe) rs768633138 0.00002
NM_000751.3(CHRND):c.1372G>A (p.Glu458Lys) rs140982683 0.00002
NM_000751.3(CHRND):c.1411C>T (p.Arg471Cys) rs533115724 0.00002
NM_000751.3(CHRND):c.1417dup (p.Cys473fs) rs1468893310 0.00002
NM_000751.3(CHRND):c.1552T>G (p.Ter518Glu) rs756238142 0.00002
NM_000751.3(CHRND):c.463G>A (p.Val155Ile) rs767201456 0.00002
NM_000751.3(CHRND):c.698G>A (p.Arg233His) rs146416320 0.00002
NM_000751.3(CHRND):c.893G>A (p.Arg298His) rs139722128 0.00002
NM_000751.3(CHRND):c.928G>A (p.Gly310Ser) rs771670415 0.00002
NM_005199.5(CHRNG):c.1030C>T (p.Arg344Cys) rs554907332 0.00002
NM_005199.5(CHRNG):c.1074C>T (p.His358=) rs761581720 0.00002
NM_005199.5(CHRNG):c.1178T>C (p.Leu393Pro) rs1360277075 0.00002
NM_005199.5(CHRNG):c.1528C>T (p.Arg510Cys) rs762066089 0.00002
NM_005199.5(CHRNG):c.167A>C (p.Lys56Thr) rs376314818 0.00002
NM_005199.5(CHRNG):c.57G>C (p.Gly19=) rs753421728 0.00002
NM_000079.4(CHRNA1):c.*414T>A rs886055146 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.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.1264G>A (p.Val422Ile) rs754320308 0.00001
NM_000079.4(CHRNA1):c.1288C>T (p.Leu430Phe) rs759664482 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.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.2T>C (p.Met1Thr) rs779169597 0.00001
NM_000079.4(CHRNA1):c.314T>C (p.Ile105Thr) rs764809207 0.00001
NM_000079.4(CHRNA1):c.344+6C>A rs1438960872 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.454G>A (p.Val152Ile) rs137852807 0.00001
NM_000079.4(CHRNA1):c.514G>A (p.Asp172Asn) rs1232135247 0.00001
NM_000079.4(CHRNA1):c.526G>A (p.Val176Met) rs137852799 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.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.749G>A (p.Gly250Asp) rs1261346012 0.00001
NM_000079.4(CHRNA1):c.838A>G (p.Ile280Val) rs1184577812 0.00001
NM_000079.4(CHRNA1):c.860C>T (p.Thr287Met) rs370345788 0.00001
NM_000751.3(CHRND):c.*196G>A rs886055783 0.00001
NM_000751.3(CHRND):c.*505C>G rs1305242921 0.00001
NM_000751.3(CHRND):c.*598G>C rs774235883 0.00001
NM_000751.3(CHRND):c.*92C>T rs561266227 0.00001
NM_000751.3(CHRND):c.1084T>A (p.Ser362Thr) rs778769803 0.00001
NM_000751.3(CHRND):c.1088G>A (p.Arg363His) rs748108743 0.00001
NM_000751.3(CHRND):c.1199T>C (p.Met400Thr) rs774443865 0.00001
NM_000751.3(CHRND):c.1200G>C (p.Met400Ile) rs1691804529 0.00001
NM_000751.3(CHRND):c.1235G>A (p.Arg412Lys) rs1011570439 0.00001
NM_000751.3(CHRND):c.1237C>T (p.Arg413Cys) rs1242056715 0.00001
NM_000751.3(CHRND):c.1330T>C (p.Phe444Leu) rs772140028 0.00001
NM_000751.3(CHRND):c.1334T>C (p.Ile445Thr) rs573680102 0.00001
NM_000751.3(CHRND):c.136G>A (p.Ala46Thr) rs1085307559 0.00001
NM_000751.3(CHRND):c.145G>A (p.Glu49Lys) rs767640700 0.00001
NM_000751.3(CHRND):c.1462A>G (p.Ile488Val) rs1317082231 0.00001
NM_000751.3(CHRND):c.1544G>A (p.Arg515His) rs570911554 0.00001
NM_000751.3(CHRND):c.155T>A (p.Val52Glu) rs1260266473 0.00001
NM_000751.3(CHRND):c.172C>T (p.Leu58Phe) rs752410720 0.00001
NM_000751.3(CHRND):c.236T>A (p.Ile79Lys) rs121909509 0.00001
NM_000751.3(CHRND):c.244G>A (p.Gly82Ser) rs794727630 0.00001
NM_000751.3(CHRND):c.314C>T (p.Pro105Leu) rs769160054 0.00001
NM_000751.3(CHRND):c.380A>G (p.Tyr127Cys) rs1231032358 0.00001
NM_000751.3(CHRND):c.446C>T (p.Ser149Phe) rs762904291 0.00001
NM_000751.3(CHRND):c.52+7G>A rs1388167579 0.00001
NM_000751.3(CHRND):c.524C>T (p.Thr175Met) rs752113659 0.00001
NM_000751.3(CHRND):c.571C>T (p.Arg191Cys) rs778217557 0.00001
NM_000751.3(CHRND):c.647G>A (p.Arg216Gln) rs746959201 0.00001
NM_000751.3(CHRND):c.662A>G (p.Asn221Ser) rs774497252 0.00001
NM_000751.3(CHRND):c.723C>G (p.Ile241Met) rs1416558563 0.00001
NM_000751.3(CHRND):c.823G>A (p.Gly275Ser) rs373187583 0.00001
NM_000751.3(CHRND):c.88C>T (p.Arg30Trp) rs1047325384 0.00001
NM_000751.3(CHRND):c.890A>G (p.Lys297Arg) rs187055404 0.00001
NM_000751.3(CHRND):c.899C>A (p.Pro300His) rs145981548 0.00001
NM_000751.3(CHRND):c.932+3G>A rs772540464 0.00001
NM_000751.3(CHRND):c.932+9C>T rs367837942 0.00001
NM_000751.3(CHRND):c.957G>A (p.Leu319=) rs1691699126 0.00001
NM_005199.5(CHRNG):c.*69T>G rs1259742484 0.00001
NM_005199.5(CHRNG):c.1180C>G (p.Pro394Ala) rs771886490 0.00001
NM_005199.5(CHRNG):c.250G>A (p.Asp84Asn) rs771588131 0.00001
NM_005199.5(CHRNG):c.394G>A (p.Val132Met) rs781249093 0.00001
NM_005199.5(CHRNG):c.5A>T (p.His2Leu) rs775592546 0.00001
NC_000002.11:g.(?_175612842)_(175629600_?)dup
NC_000002.11:g.(?_175612852)_(175629122_?)dup
NC_000002.11:g.(?_233194503)_(233399072_?)dup
NC_000002.11:g.(?_233320910)_(233410426_?)dup
NC_000002.11:g.(?_233390906)_(233410446_?)dup
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.*466G>C rs544906046
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.1003-3T>C rs1683789512
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.1088C>G (p.Thr363Arg) rs146771663
NM_000079.4(CHRNA1):c.1123C>T (p.Pro375Ser)
NM_000079.4(CHRNA1):c.1130C>G (p.Pro377Arg)
NM_000079.4(CHRNA1):c.1151C>T (p.Ser384Phe)
NM_000079.4(CHRNA1):c.1189G>A (p.Glu397Lys)
NM_000079.4(CHRNA1):c.1196T>C (p.Ile399Thr)
NM_000079.4(CHRNA1):c.1221G>T (p.Lys407Asn) rs1291588996
NM_000079.4(CHRNA1):c.1231G>A (p.Glu411Lys)
NM_000079.4(CHRNA1):c.1243-3C>T rs1574002055
NM_000079.4(CHRNA1):c.1248G>A (p.Ala416=) rs17838545
NM_000079.4(CHRNA1):c.1255T>A (p.Trp419Arg) rs61731797
NM_000079.4(CHRNA1):c.1262A>G (p.Tyr421Cys)
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.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.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.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.23T>C (p.Leu8Pro)
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.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.298A>T (p.Ile100Phe) rs752761320
NM_000079.4(CHRNA1):c.310A>G (p.Lys104Glu)
NM_000079.4(CHRNA1):c.320G>T (p.Arg107Leu) rs376844505
NM_000079.4(CHRNA1):c.345-3T>C
NM_000079.4(CHRNA1):c.345-7A>G rs759145005
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.376A>G (p.Thr126Ala)
NM_000079.4(CHRNA1):c.383T>G (p.Val128Gly) rs1553469444
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.431T>C (p.Phe144Ser)
NM_000079.4(CHRNA1):c.435A>T (p.Lys145Asn)
NM_000079.4(CHRNA1):c.44-5C>G rs2105352241
NM_000079.4(CHRNA1):c.451A>G (p.Ile151Val)
NM_000079.4(CHRNA1):c.451A>T (p.Ile151Phe) rs560121316
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.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.540G>A (p.Pro180=)
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.562A>C (p.Ser188Arg) rs1683909326
NM_000079.4(CHRNA1):c.581G>A (p.Gly194Glu)
NM_000079.4(CHRNA1):c.604C>T (p.Arg202Trp)
NM_000079.4(CHRNA1):c.640C>T (p.Pro214Ser) rs1574006591
NM_000079.4(CHRNA1):c.653A>C (p.Tyr218Ser) rs1574006535
NM_000079.4(CHRNA1):c.661A>G (p.Ile221Val)
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.70G>A (p.Glu24Lys)
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.769A>G (p.Thr257Ala) rs1558911687
NM_000079.4(CHRNA1):c.778+4G>T
NM_000079.4(CHRNA1):c.788T>C (p.Met263Thr)
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.824T>C (p.Val275Ala) rs2105345399
NM_000079.4(CHRNA1):c.827T>C (p.Phe276Ser)
NM_000079.4(CHRNA1):c.860C>G (p.Thr287Arg)
NM_000079.4(CHRNA1):c.874C>T (p.Pro292Ser)
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.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)
NM_000751.3(CHRND):c.*1194C>T rs778967055
NM_000751.3(CHRND):c.*1232A>C rs1691898332
NM_000751.3(CHRND):c.*175G>A rs1691855725
NM_000751.3(CHRND):c.*268G>A rs1206421929
NM_000751.3(CHRND):c.*449C>T rs886055784
NM_000751.3(CHRND):c.1010C>A (p.Thr337Lys)
NM_000751.3(CHRND):c.102A>C (p.Gln34His) rs780478522
NM_000751.3(CHRND):c.1033G>C (p.Glu345Gln) rs758772612
NM_000751.3(CHRND):c.1047+3G>A
NM_000751.3(CHRND):c.1047+5G>T rs780881475
NM_000751.3(CHRND):c.1071G>C (p.Glu357Asp) rs1235160365
NM_000751.3(CHRND):c.1072C>T (p.Leu358Phe)
NM_000751.3(CHRND):c.107A>G (p.Lys36Arg)
NM_000751.3(CHRND):c.1083G>C (p.Met361Ile)
NM_000751.3(CHRND):c.1085C>G (p.Ser362Cys) rs1054895490
NM_000751.3(CHRND):c.1088G>C (p.Arg363Pro)
NM_000751.3(CHRND):c.1098G>C (p.Glu366Asp)
NM_000751.3(CHRND):c.1106C>G (p.Pro369Arg) rs1691800096
NM_000751.3(CHRND):c.1123G>T (p.Val375Leu)
NM_000751.3(CHRND):c.1151T>A (p.Ile384Asn)
NM_000751.3(CHRND):c.1167G>T (p.Glu389Asp)
NM_000751.3(CHRND):c.1186C>T (p.Arg396Cys)
NM_000751.3(CHRND):c.1187G>A (p.Arg396His) rs770837281
NM_000751.3(CHRND):c.118A>G (p.Lys40Glu) rs1475752234
NM_000751.3(CHRND):c.1203C>G (p.Phe401Leu)
NM_000751.3(CHRND):c.1218G>T (p.Glu406Asp)
NM_000751.3(CHRND):c.1219C>T (p.Arg407Trp) rs766721840
NM_000751.3(CHRND):c.1223A>G (p.His408Arg)
NM_000751.3(CHRND):c.1237C>A (p.Arg413Ser) rs1242056715
NM_000751.3(CHRND):c.1238G>A (p.Arg413His)
NM_000751.3(CHRND):c.1238G>T (p.Arg413Leu)
NM_000751.3(CHRND):c.1252C>G (p.Arg418Gly)
NM_000751.3(CHRND):c.1252C>T (p.Arg418Cys)
NM_000751.3(CHRND):c.1290A>T (p.Glu430Asp) rs1691812180
NM_000751.3(CHRND):c.1298A>G (p.Asn433Ser)
NM_000751.3(CHRND):c.1325C>T (p.Ala442Val)
NM_000751.3(CHRND):c.1345_1346del (p.Met449fs) rs1553575435
NM_000751.3(CHRND):c.1367del (p.Asn456fs) rs775837014
NM_000751.3(CHRND):c.1371+1G>T
NM_000751.3(CHRND):c.1375A>G (p.Lys459Glu)
NM_000751.3(CHRND):c.1391G>A (p.Arg464Gln) rs1574638484
NM_000751.3(CHRND):c.1399C>T (p.Arg467Cys)
NM_000751.3(CHRND):c.13G>T (p.Val5Leu)
NM_000751.3(CHRND):c.1400G>T (p.Arg467Leu) rs148939701
NM_000751.3(CHRND):c.1403C>G (p.Thr468Arg)
NM_000751.3(CHRND):c.1403C>T (p.Thr468Ile) rs374459301
NM_000751.3(CHRND):c.140A>T (p.His47Leu)
NM_000751.3(CHRND):c.1411C>G (p.Arg471Gly) rs533115724
NM_000751.3(CHRND):c.1433C>T (p.Thr478Met)
NM_000751.3(CHRND):c.1435C>A (p.Pro479Thr)
NM_000751.3(CHRND):c.1436C>G (p.Pro479Arg)
NM_000751.3(CHRND):c.1442TGG[2] (p.Val483del)
NM_000751.3(CHRND):c.1444G>C (p.Val482Leu)
NM_000751.3(CHRND):c.1455A>G (p.Thr485=) rs756537437
NM_000751.3(CHRND):c.1473G>T (p.Gln491His) rs886055781
NM_000751.3(CHRND):c.1480T>A (p.Tyr494Asn)
NM_000751.3(CHRND):c.1484A>G (p.Asn495Ser)
NM_000751.3(CHRND):c.148G>A (p.Glu50Lys)
NM_000751.3(CHRND):c.1515C>A (p.Asp505Glu) rs2106215790
NM_000751.3(CHRND):c.1523C>G (p.Ser508Cys)
NM_000751.3(CHRND):c.1528A>G (p.Asn510Asp)
NM_000751.3(CHRND):c.1530C>G (p.Asn510Lys) rs114463490
NM_000751.3(CHRND):c.1535A>G (p.Gln512Arg) rs2106215821
NM_000751.3(CHRND):c.1553A>G (p.Ter518Trp) rs1203669806
NM_000751.3(CHRND):c.1554G>T (p.Ter518Tyr) rs780761579
NM_000751.3(CHRND):c.158A>G (p.Asp53Gly)
NM_000751.3(CHRND):c.167T>C (p.Leu56Pro) rs1553573832
NM_000751.3(CHRND):c.170C>T (p.Ala57Val)
NM_000751.3(CHRND):c.178C>G (p.Leu60Val) rs200743096
NM_000751.3(CHRND):c.187C>A (p.Leu63Ile) rs2106206284
NM_000751.3(CHRND):c.218T>C (p.Leu73Pro) rs1691518594
NM_000751.3(CHRND):c.236T>C (p.Ile79Thr)
NM_000751.3(CHRND):c.244-3C>T
NM_000751.3(CHRND):c.259C>T (p.Arg87Trp)
NM_000751.3(CHRND):c.262C>G (p.Leu88Val) rs180971628
NM_000751.3(CHRND):c.267G>C (p.Lys89Asn) rs545298641
NM_000751.3(CHRND):c.281A>G (p.Glu94Gly) rs1691557368
NM_000751.3(CHRND):c.292A>G (p.Ile98Val)
NM_000751.3(CHRND):c.298G>C (p.Val100Leu) rs955184518
NM_000751.3(CHRND):c.29T>C (p.Leu10Pro)
NM_000751.3(CHRND):c.304C>A (p.Arg102Ser)
NM_000751.3(CHRND):c.304C>T (p.Arg102Cys) rs775578238
NM_000751.3(CHRND):c.314C>G (p.Pro105Arg) rs769160054
NM_000751.3(CHRND):c.340G>C (p.Val114Leu)
NM_000751.3(CHRND):c.348G>A (p.Glu116=) rs1691560409
NM_000751.3(CHRND):c.34G>A (p.Ala12Thr) rs1691456942
NM_000751.3(CHRND):c.361G>A (p.Gly121Ser) rs752699014
NM_000751.3(CHRND):c.361G>C (p.Gly121Arg) rs752699014
NM_000751.3(CHRND):c.364T>C (p.Ser122Pro)
NM_000751.3(CHRND):c.369C>G (p.Phe123Leu)
NM_000751.3(CHRND):c.385T>C (p.Cys129Arg)
NM_000751.3(CHRND):c.389A>G (p.Asn130Ser) rs1553574327
NM_000751.3(CHRND):c.391G>A (p.Val131Met) rs755141289
NM_000751.3(CHRND):c.391G>C (p.Val131Leu)
NM_000751.3(CHRND):c.409G>A (p.Gly137Ser)
NM_000751.3(CHRND):c.41T>G (p.Leu14Arg)
NM_000751.3(CHRND):c.440T>C (p.Phe147Ser)
NM_000751.3(CHRND):c.443G>A (p.Arg148His)
NM_000751.3(CHRND):c.449C>G (p.Ser150Cys) rs1441233980
NM_000751.3(CHRND):c.461C>T (p.Ser154Phe) rs2106208649
NM_000751.3(CHRND):c.481G>A (p.Asp161Asn)
NM_000751.3(CHRND):c.492C>G (p.Asn164Lys)
NM_000751.3(CHRND):c.494G>T (p.Cys165Phe) rs1258523257
NM_000751.3(CHRND):c.52+6G>A rs1301307735
NM_000751.3(CHRND):c.520T>C (p.Tyr174His)
NM_000751.3(CHRND):c.529A>G (p.Lys177Glu) rs1691581371
NM_000751.3(CHRND):c.536T>C (p.Ile179Thr)
NM_000751.3(CHRND):c.570C>G (p.Asn190Lys) rs768218659
NM_000751.3(CHRND):c.571C>G (p.Arg191Gly)
NM_000751.3(CHRND):c.572G>A (p.Arg191His)
NM_000751.3(CHRND):c.601G>A (p.Asp201Asn) rs1691584182
NM_000751.3(CHRND):c.620-3C>G rs1691619642
NM_000751.3(CHRND):c.620-3C>T
NM_000751.3(CHRND):c.625G>A (p.Gly209Arg) rs766740341
NM_000751.3(CHRND):c.641T>C (p.Val214Ala) rs1691620619
NM_000751.3(CHRND):c.650C>T (p.Pro217Leu) rs149439815
NM_000751.3(CHRND):c.658G>A (p.Val220Ile)
NM_000751.3(CHRND):c.664G>A (p.Val222Met)
NM_000751.3(CHRND):c.68A>T (p.Asn23Ile) rs1691474796
NM_000751.3(CHRND):c.691C>T (p.Pro231Ser)
NM_000751.3(CHRND):c.709A>T (p.Thr237Ser)
NM_000751.3(CHRND):c.710C>T (p.Thr237Ile)
NM_000751.3(CHRND):c.713_715del (p.Phe238del) rs2106210087
NM_000751.3(CHRND):c.718C>T (p.Leu240Phe)
NM_000751.3(CHRND):c.725T>C (p.Ile242Thr)
NM_000751.3(CHRND):c.731G>A (p.Arg244His)
NM_000751.3(CHRND):c.736C>T (p.Pro246Ser)
NM_000751.3(CHRND):c.772G>A (p.Val258Met)
NM_000751.3(CHRND):c.784_786del (p.Phe262del)
NM_000751.3(CHRND):c.79C>T (p.Arg27Trp)
NM_000751.3(CHRND):c.820+5G>A
NM_000751.3(CHRND):c.822T>G (p.Ser274Arg)
NM_000751.3(CHRND):c.839T>C (p.Val280Ala)
NM_000751.3(CHRND):c.859G>T (p.Ala287Ser) rs1691690683
NM_000751.3(CHRND):c.880C>T (p.Leu294Phe) rs1574633904
NM_000751.3(CHRND):c.904A>C (p.Thr302Pro) rs561839978
NM_000751.3(CHRND):c.912G>A (p.Met304Ile)
NM_000751.3(CHRND):c.929G>A (p.Gly310Asp)
NM_000751.3(CHRND):c.932+5G>T
NM_000751.3(CHRND):c.938T>C (p.Leu313Pro)
NM_000751.3(CHRND):c.956T>C (p.Leu319Pro) rs1553575093
NM_000751.3(CHRND):c.962C>A (p.Thr321Asn) rs776316455
NM_000751.3(CHRND):c.967G>T (p.Val323Phe)
NM_000751.3(CHRND):c.982G>T (p.Val328Phe)
NM_000751.3(CHRND):c.983T>A (p.Val328Asp) rs2106211615
NM_000751.3(CHRND):c.991C>T (p.Leu331Phe) rs1292476417
NM_005199.5(CHRNG):c.*181T>C rs944288485
NM_005199.5(CHRNG):c.*291C>G rs1044726391
NM_005199.5(CHRNG):c.*508T>C rs886055787
NM_005199.5(CHRNG):c.*592C>T rs72991940
NM_005199.5(CHRNG):c.1105G>A (p.Asp369Asn) rs1406594207
NM_005199.5(CHRNG):c.1213C>T (p.Arg405Trp) rs760473901
NM_005199.5(CHRNG):c.1227G>A (p.Val409=) rs1692086043
NM_005199.5(CHRNG):c.196-9C>T rs182635953
NM_005199.5(CHRNG):c.234A>T (p.Ile78=) rs1691992464
NM_005199.5(CHRNG):c.440G>T (p.Arg147Leu) rs144323121
NM_005199.5(CHRNG):c.474C>T (p.Pro158=) rs145907618
NM_005199.5(CHRNG):c.708C>T (p.Leu236=) rs1308873617

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.