ClinVar Miner

List of variants studied for lethal multiple pterygium syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 185
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000751.3(CHRND):c.12A>G (p.Pro4=) rs2245601 0.45730
NM_000751.3(CHRND):c.*885T>C rs1004175 0.34980
NM_000751.3(CHRND):c.*52A>G rs2767 0.34088
NM_005199.5(CHRNG):c.921-12C>T rs13018423 0.22363
NM_005199.5(CHRNG):c.507-13C>T rs2853462 0.20012
NM_005199.5(CHRNG):c.*568C>T rs72991939 0.18562
NM_005199.5(CHRNG):c.*496A>G rs72991937 0.18514
NM_005199.5(CHRNG):c.1422C>T (p.Arg474=) rs2099489 0.17611
NM_000079.4(CHRNA1):c.960C>T (p.His320=) rs2229957 0.08849
NM_000751.3(CHRND):c.1047+9T>C rs3762528 0.07349
NM_000751.3(CHRND):c.*424C>T rs4973046 0.06579
NM_000751.3(CHRND):c.120G>A (p.Lys40=) rs55921262 0.03225
NM_000751.3(CHRND):c.*1025A>G rs115132742 0.02647
NM_005199.5(CHRNG):c.445G>A (p.Ala149Thr) rs2289080 0.02629
NM_005199.5(CHRNG):c.*77T>C rs11690038 0.02138
NM_000079.4(CHRNA1):c.1073A>T (p.Asp358Val) rs6739001 0.02064
NM_000079.4(CHRNA1):c.540+4G>C rs112674580 0.01914
NM_000751.3(CHRND):c.*149A>G rs114315112 0.01306
NM_005199.5(CHRNG):c.951C>A (p.Ile317=) rs75369104 0.00988
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_005199.5(CHRNG):c.1516C>T (p.Pro506Ser) rs71421651 0.00520
NM_000079.4(CHRNA1):c.*499A>T rs574135903 0.00488
NM_000079.4(CHRNA1):c.643G>A (p.Asp215Asn) rs148304857 0.00413
NM_000751.3(CHRND):c.*1240T>C rs77032539 0.00369
NM_000751.3(CHRND):c.1105C>T (p.Pro369Ser) rs2229194 0.00305
NM_000751.3(CHRND):c.117C>G (p.Asn39Lys) rs77084550 0.00300
NM_005199.5(CHRNG):c.195+14C>T rs200640510 0.00299
NM_000751.3(CHRND):c.414C>T (p.Phe138=) rs150208750 0.00265
NM_005199.5(CHRNG):c.125G>A (p.Arg42Gln) rs148468628 0.00262
NM_005199.5(CHRNG):c.*351G>A rs111802317 0.00258
NM_000079.4(CHRNA1):c.655C>T (p.Leu219=) rs150638770 0.00220
NM_000079.4(CHRNA1):c.-37A>G rs182459320 0.00217
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_000751.3(CHRND):c.1530C>T (p.Asn510=) rs114463490 0.00175
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_000079.4(CHRNA1):c.*411G>A rs560280191 0.00057
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_005199.5(CHRNG):c.132G>A (p.Ala44=) rs141402683 0.00050
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.*580C>T rs371903548 0.00034
NM_000751.3(CHRND):c.*676G>A rs183259359 0.00032
NM_005199.5(CHRNG):c.1381G>A (p.Gly461Arg) rs143800157 0.00032
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.*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_000751.3(CHRND):c.1367A>G (p.Asn456Ser) rs144433265 0.00014
NM_000751.3(CHRND):c.*908A>G rs547787086 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.*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_000079.4(CHRNA1):c.723C>T (p.Pro241=) rs189442556 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.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_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_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_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_000751.3(CHRND):c.*1278C>T rs983960063 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.76C>T (p.Arg26Cys) rs536229089 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.920C>T (p.Pro307Leu) rs371376389 0.00004
NM_005199.5(CHRNG):c.357C>T (p.Asp119=) rs749995118 0.00004
NM_000079.4(CHRNA1):c.912C>T (p.Phe304=) rs373005571 0.00003
NM_000751.3(CHRND):c.*1032C>T rs886055786 0.00003
NM_000751.3(CHRND):c.*227G>A rs766592644 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.605G>A (p.Arg202Gln) rs769337073 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.893G>A (p.Arg298His) rs139722128 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.1288C>T (p.Leu430Phe) rs759664482 0.00001
NM_000079.4(CHRNA1):c.1332C>T (p.Ala444=) rs771587252 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.711C>T (p.Asn237=) rs137852798 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.145G>A (p.Glu49Lys) rs767640700 0.00001
NM_000751.3(CHRND):c.172C>T (p.Leu58Phe) rs752410720 0.00001
NM_000751.3(CHRND):c.52+7G>A rs1388167579 0.00001
NM_000751.3(CHRND):c.932+9C>T rs367837942 0.00001
NM_005199.5(CHRNG):c.*69T>G rs1259742484 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
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.1248G>A (p.Ala416=) rs17838545
NM_000079.4(CHRNA1):c.1255T>A (p.Trp419Arg) rs61731797
NM_000079.4(CHRNA1):c.686G>A (p.Arg229His) rs137852809
NM_000079.4(CHRNA1):c.705C>A (p.Ile235=) rs143252724
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.*547G>C rs2343841
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.267G>C (p.Lys89Asn) rs545298641
NM_000751.3(CHRND):c.348G>A (p.Glu116=) rs1691560409
NM_005199.5(CHRNG):c.*181T>C rs944288485
NM_005199.5(CHRNG):c.*291C>G rs1044726391
NM_005199.5(CHRNG):c.*477C>A rs59295139
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

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