ClinVar Miner

List of variants reported as uncertain significance for Congenital myasthenic syndrome by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 159
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HGVS dbSNP gnomAD frequency
NM_000079.4(CHRNA1):c.*499A>T rs574135903 0.00488
NM_000080.4(CHRNE):c.*805T>G rs113366718 0.00265
NM_000751.3(CHRND):c.414C>T (p.Phe138=) rs150208750 0.00265
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_000080.4(CHRNE):c.*267C>T rs551251860 0.00185
NM_000079.4(CHRNA1):c.*461A>T rs542750994 0.00179
NM_000080.4(CHRNE):c.*855C>T rs575836707 0.00177
NM_000751.3(CHRND):c.*1189G>C rs556909638 0.00136
NM_000080.4(CHRNE):c.1416C>T (p.Leu472=) rs145456588 0.00133
NM_000080.4(CHRNE):c.918-14T>C rs375376258 0.00131
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_000079.4(CHRNA1):c.224G>A (p.Arg75His) rs147488907 0.00069
NM_000080.4(CHRNE):c.*902C>T rs369145199 0.00069
NM_000080.4(CHRNE):c.*903G>A rs549064723 0.00069
NM_000079.4(CHRNA1):c.*411G>A rs560280191 0.00057
NM_000751.3(CHRND):c.1253-9C>T rs2853458 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_000080.4(CHRNE):c.901G>A (p.Val301Met) rs140023380 0.00046
NM_000080.4(CHRNE):c.*315T>G rs779969688 0.00045
NM_000080.4(CHRNE):c.1245C>T (p.Ala415=) rs202051373 0.00043
NM_000080.4(CHRNE):c.581T>C (p.Ile194Thr) rs146931108 0.00042
NM_000751.3(CHRND):c.727C>T (p.Arg243Cys) rs201733876 0.00042
NM_000080.4(CHRNE):c.*125C>T rs538687901 0.00036
NM_000751.3(CHRND):c.198+14C>T rs199538903 0.00036
NM_000751.3(CHRND):c.*580C>T rs371903548 0.00034
NM_000080.4(CHRNE):c.*572C>G rs564549054 0.00029
NM_000751.3(CHRND):c.*641C>T rs190008760 0.00029
NM_000079.4(CHRNA1):c.1247C>T (p.Ala416Val) rs367751078 0.00026
NM_000080.4(CHRNE):c.23T>C (p.Val8Ala) rs199807050 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_000080.4(CHRNE):c.46+5G>A rs375802288 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_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_000080.4(CHRNE):c.556G>A (p.Gly186Ser) rs764960076 0.00019
NM_000079.4(CHRNA1):c.*101C>T rs867744338 0.00016
NM_000080.4(CHRNE):c.797C>T (p.Ala266Val) rs201463598 0.00016
NM_000080.4(CHRNE):c.896T>C (p.Leu299Pro) rs142735836 0.00014
NM_000751.3(CHRND):c.1367A>G (p.Asn456Ser) rs144433265 0.00014
NM_000751.3(CHRND):c.*908A>G rs547787086 0.00012
NM_000079.4(CHRNA1):c.1002+9G>A rs368959759 0.00011
NM_000080.4(CHRNE):c.1183T>G (p.Phe395Val) rs755802710 0.00011
NM_000080.4(CHRNE):c.506A>T (p.Gln169Leu) rs148370803 0.00010
NM_000080.4(CHRNE):c.710G>T (p.Arg237Leu) rs201434993 0.00010
NM_000080.4(CHRNE):c.465C>T (p.Phe155=) rs139625105 0.00009
NM_000080.4(CHRNE):c.768C>T (p.Gly256=) rs372509633 0.00009
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_000080.4(CHRNE):c.6A>G (p.Ala2=) rs202198207 0.00008
NM_000080.4(CHRNE):c.820A>G (p.Thr274Ala) rs774407731 0.00008
NM_000751.3(CHRND):c.411C>T (p.Gly137=) rs373578965 0.00008
NM_000079.4(CHRNA1):c.813G>A (p.Leu271=) rs374093236 0.00007
NM_000080.4(CHRNE):c.1446G>A (p.Val482=) rs376713095 0.00007
NM_000079.4(CHRNA1):c.*358C>T rs886055147 0.00006
NM_000080.4(CHRNE):c.*206G>A rs548395785 0.00006
NM_000080.4(CHRNE):c.1104C>T (p.Pro368=) rs767374241 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.*1278C>T rs983960063 0.00005
NM_000751.3(CHRND):c.442C>T (p.Arg148Cys) rs199984639 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_000080.4(CHRNE):c.1071G>A (p.Pro357=) rs772143528 0.00004
NM_000080.4(CHRNE):c.1374C>T (p.Cys458=) rs201030784 0.00004
NM_000080.4(CHRNE):c.781G>T (p.Ala261Ser) rs762509943 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_000079.4(CHRNA1):c.912C>T (p.Phe304=) rs373005571 0.00003
NM_000080.4(CHRNE):c.*597G>A rs886053118 0.00003
NM_000080.4(CHRNE):c.1289T>G (p.Val430Gly) rs200343520 0.00003
NM_000080.4(CHRNE):c.802+7A>C rs756213406 0.00003
NM_000751.3(CHRND):c.*1032C>T rs886055786 0.00003
NM_000751.3(CHRND):c.*227G>A rs766592644 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_000080.4(CHRNE):c.235-5C>T rs371818740 0.00002
NM_000080.4(CHRNE):c.360C>T (p.Phe120=) rs140042356 0.00002
NM_000080.4(CHRNE):c.510G>A (p.Thr170=) rs749454549 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_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_000080.4(CHRNE):c.*366G>A rs551684568 0.00001
NM_000080.4(CHRNE):c.*38G>A rs755764652 0.00001
NM_000080.4(CHRNE):c.*556C>T rs886053120 0.00001
NM_000080.4(CHRNE):c.*5C>T rs747566295 0.00001
NM_000080.4(CHRNE):c.1030C>G (p.His344Asp) rs886053125 0.00001
NM_000080.4(CHRNE):c.1228T>C (p.Cys410Arg) rs753739289 0.00001
NM_000080.4(CHRNE):c.723C>T (p.Leu241=) rs886053126 0.00001
NM_000080.4(CHRNE):c.794C>G (p.Pro265Arg) rs759226183 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_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_000080.4(CHRNE):c.*24C>T rs371649855
NM_000080.4(CHRNE):c.*329T>A rs1597611527
NM_000080.4(CHRNE):c.*383G>A rs886053121
NM_000080.4(CHRNE):c.*388C>T rs1337870258
NM_000080.4(CHRNE):c.*590C>T rs886053119
NM_000080.4(CHRNE):c.*622C>T rs886053117
NM_000080.4(CHRNE):c.*806G>A rs886053114
NM_000080.4(CHRNE):c.*836C>T rs886053113
NM_000080.4(CHRNE):c.*852G>A rs761256289
NM_000080.4(CHRNE):c.*875C>T rs886053112
NM_000080.4(CHRNE):c.*876G>A rs192238331
NM_000080.4(CHRNE):c.1057C>G (p.Leu353Val) rs1969863454
NM_000080.4(CHRNE):c.107A>C (p.Asp36Ala) rs886053127
NM_000080.4(CHRNE):c.1106C>G (p.Pro369Arg) rs1487474998
NM_000080.4(CHRNE):c.1116G>A (p.Ala372=) rs1226276974
NM_000080.4(CHRNE):c.1205A>G (p.Gln402Arg) rs1969848501
NM_000080.4(CHRNE):c.1220-2A>G rs1309292778
NM_000080.4(CHRNE):c.1326+6A>C rs886053122
NM_000080.4(CHRNE):c.1383C>G (p.Ala461=) rs570378547
NM_000080.4(CHRNE):c.1480T>C (p.Ter494Gln) rs972956416
NM_000080.4(CHRNE):c.385_388del (p.Leu129fs) rs1411229157
NM_000080.4(CHRNE):c.710G>A (p.Arg237His) rs201434993
NM_000080.4(CHRNE):c.985T>C (p.Ser329Pro) rs2151095207
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.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

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