ClinVar Miner

List of variants in gene CHRNB1 reported as uncertain significance for congenital myasthenic syndrome 2A

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 174
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HGVS dbSNP gnomAD frequency
NM_000747.3(CHRNB1):c.229G>A (p.Val77Met) rs140556296 0.00047
NM_000747.3(CHRNB1):c.340G>A (p.Val114Met) rs149433073 0.00024
NM_000747.3(CHRNB1):c.167T>C (p.Val56Ala) rs759668768 0.00013
NM_000747.3(CHRNB1):c.59-3C>T rs372041531 0.00010
NM_000747.3(CHRNB1):c.500T>C (p.Met167Thr) rs1284035468 0.00009
NM_000747.3(CHRNB1):c.243+18G>T rs369504006 0.00008
NM_000747.3(CHRNB1):c.598G>A (p.Gly200Arg) rs149981394 0.00006
NM_000747.3(CHRNB1):c.694C>A (p.Arg232Ser) rs751294067 0.00006
NM_000747.3(CHRNB1):c.728G>A (p.Arg243His) rs200409941 0.00006
NM_000747.3(CHRNB1):c.419G>T (p.Arg140Leu) rs140086721 0.00005
NM_000747.3(CHRNB1):c.1406G>T (p.Arg469Leu) rs762250406 0.00004
NM_000747.3(CHRNB1):c.187C>G (p.Leu63Val) rs761035556 0.00004
NM_000747.3(CHRNB1):c.286G>T (p.Asp96Tyr) rs778968747 0.00004
NM_000747.3(CHRNB1):c.364A>C (p.Asn122His) rs776217572 0.00004
NM_000747.3(CHRNB1):c.407A>G (p.Asp136Gly) rs370702418 0.00004
NM_000747.3(CHRNB1):c.462+6C>T rs780337044 0.00004
NM_000747.3(CHRNB1):c.82G>A (p.Gly28Ser) rs761717412 0.00004
NM_000747.3(CHRNB1):c.1003C>T (p.Arg335Cys) rs779467380 0.00003
NM_000747.3(CHRNB1):c.1365+5G>C rs1051316024 0.00003
NM_000747.3(CHRNB1):c.354-8C>G rs747533360 0.00003
NM_000747.3(CHRNB1):c.481G>A (p.Asp161Asn) rs766657460 0.00003
NM_000747.3(CHRNB1):c.578A>G (p.Gln193Arg) rs376604413 0.00003
NM_000747.3(CHRNB1):c.61G>A (p.Val21Ile) rs775150297 0.00003
NM_000747.3(CHRNB1):c.995T>G (p.Leu332Arg) rs749634279 0.00003
NM_000747.3(CHRNB1):c.1015A>G (p.Thr339Ala) rs775070102 0.00002
NM_000747.3(CHRNB1):c.1396G>A (p.Val466Ile) rs1046733309 0.00002
NM_000747.3(CHRNB1):c.1482G>T (p.Leu494Phe) rs747251351 0.00002
NM_000747.3(CHRNB1):c.314C>T (p.Ala105Val) rs866965972 0.00002
NM_000747.3(CHRNB1):c.499A>G (p.Met167Val) rs755445802 0.00002
NM_000747.3(CHRNB1):c.572G>A (p.Gly191Glu) rs756513117 0.00002
NM_000747.3(CHRNB1):c.608T>C (p.Ile203Thr) rs1186710796 0.00002
NM_000747.3(CHRNB1):c.914T>G (p.Val305Gly) rs372910299 0.00002
NM_000747.3(CHRNB1):c.955G>A (p.Val319Ile) rs753646298 0.00002
NM_000747.3(CHRNB1):c.1004G>A (p.Arg335His) rs746417364 0.00001
NM_000747.3(CHRNB1):c.1033T>G (p.Trp345Gly) rs1909002019 0.00001
NM_000747.3(CHRNB1):c.1040G>A (p.Arg347His) rs371142002 0.00001
NM_000747.3(CHRNB1):c.1139G>C (p.Gly380Ala) rs1377352531 0.00001
NM_000747.3(CHRNB1):c.1177C>G (p.Arg393Gly) rs2069939028 0.00001
NM_000747.3(CHRNB1):c.1210C>T (p.Pro404Ser) rs1199729169 0.00001
NM_000747.3(CHRNB1):c.1418G>A (p.Trp473Ter) rs772731018 0.00001
NM_000747.3(CHRNB1):c.1441G>T (p.Val481Phe) rs1205517699 0.00001
NM_000747.3(CHRNB1):c.1448C>T (p.Thr483Ile) rs369847025 0.00001
NM_000747.3(CHRNB1):c.1472C>A (p.Thr491Lys) rs750490746 0.00001
NM_000747.3(CHRNB1):c.221G>T (p.Ser74Ile) rs752436749 0.00001
NM_000747.3(CHRNB1):c.236T>C (p.Leu79Ser) rs142801700 0.00001
NM_000747.3(CHRNB1):c.240C>G (p.Asp80Glu) rs373533921 0.00001
NM_000747.3(CHRNB1):c.302T>C (p.Leu101Pro) rs1028687450 0.00001
NM_000747.3(CHRNB1):c.343C>G (p.Leu115Val) rs757084012 0.00001
NM_000747.3(CHRNB1):c.373G>A (p.Val125Met) rs148584502 0.00001
NM_000747.3(CHRNB1):c.472T>C (p.Phe158Leu) rs961261483 0.00001
NM_000747.3(CHRNB1):c.530C>T (p.Ser177Leu) rs760659917 0.00001
NM_000747.3(CHRNB1):c.532G>C (p.Glu178Gln) rs1475474681 0.00001
NM_000747.3(CHRNB1):c.56C>A (p.Pro19Gln) rs759176796 0.00001
NM_000747.3(CHRNB1):c.5C>T (p.Thr2Ile) rs567015720 0.00001
NM_000747.3(CHRNB1):c.646C>T (p.Arg216Trp) rs780988754 0.00001
NM_000747.3(CHRNB1):c.706A>C (p.Ile236Leu) rs1908763989 0.00001
NM_000747.3(CHRNB1):c.724C>T (p.Arg242Cys) rs200962487 0.00001
NM_000747.3(CHRNB1):c.86G>C (p.Arg29Pro) rs767799511 0.00001
NM_000747.3(CHRNB1):c.898G>C (p.Glu300Gln) rs945086307 0.00001
NM_000747.3(CHRNB1):c.938T>C (p.Met313Thr) rs375505960 0.00001
NM_000747.3(CHRNB1):c.983T>C (p.Val328Ala) rs1247175818 0.00001
NC_000017.10:g.(?_7348447)_(7357859_?)dup
NC_000017.10:g.(?_7357606)_(7360052_?)del
NC_000017.10:g.(?_7359882)_(7360042_?)del
NM_000747.3(CHRNB1):c.1026G>A (p.Met342Ile) rs1909001767
NM_000747.3(CHRNB1):c.1039C>T (p.Arg347Cys)
NM_000747.3(CHRNB1):c.1079T>C (p.Leu360Pro) rs747724114
NM_000747.3(CHRNB1):c.1096G>A (p.Glu366Lys)
NM_000747.3(CHRNB1):c.1102G>C (p.Asp368His) rs749009183
NM_000747.3(CHRNB1):c.1112C>T (p.Pro371Leu)
NM_000747.3(CHRNB1):c.1146C>G (p.Gly382=) rs886053403
NM_000747.3(CHRNB1):c.1147T>A (p.Trp383Arg)
NM_000747.3(CHRNB1):c.1154G>A (p.Arg385Gln) rs1222134398
NM_000747.3(CHRNB1):c.1154G>C (p.Arg385Pro) rs1222134398
NM_000747.3(CHRNB1):c.115_117del (p.Asp39del) rs777431654
NM_000747.3(CHRNB1):c.1162G>T (p.Asp388Tyr)
NM_000747.3(CHRNB1):c.1172T>G (p.Phe391Cys)
NM_000747.3(CHRNB1):c.1195T>C (p.Phe399Leu)
NM_000747.3(CHRNB1):c.1198C>G (p.Leu400Val)
NM_000747.3(CHRNB1):c.1205C>G (p.Pro402Arg)
NM_000747.3(CHRNB1):c.1217+15G>T
NM_000747.3(CHRNB1):c.1218-3C>T rs886053404
NM_000747.3(CHRNB1):c.1230_1244dup (p.Pro414_Asp415insGluLeuSerAlaPro)
NM_000747.3(CHRNB1):c.1234T>C (p.Ser412Pro)
NM_000747.3(CHRNB1):c.1245_1247delinsATC (p.Asp415_Leu416delinsGluSer)
NM_000747.3(CHRNB1):c.1268C>T (p.Pro423Leu)
NM_000747.3(CHRNB1):c.1279G>A (p.Val427Met)
NM_000747.3(CHRNB1):c.1292del (p.Pro431fs) rs1239393228
NM_000747.3(CHRNB1):c.1306G>T (p.Val436Phe)
NM_000747.3(CHRNB1):c.1307T>A (p.Val436Asp) rs1597755409
NM_000747.3(CHRNB1):c.1322G>A (p.Ser441Asn)
NM_000747.3(CHRNB1):c.133G>A (p.Ala45Thr)
NM_000747.3(CHRNB1):c.1364C>A (p.Ala455Glu) rs777159945
NM_000747.3(CHRNB1):c.1365+5del rs2069945881
NM_000747.3(CHRNB1):c.137G>A (p.Arg46Gln)
NM_000747.3(CHRNB1):c.1380G>A (p.Trp460Ter)
NM_000747.3(CHRNB1):c.1404C>A (p.Asp468Glu)
NM_000747.3(CHRNB1):c.1405C>T (p.Arg469Cys)
NM_000747.3(CHRNB1):c.1406G>A (p.Arg469His) rs762250406
NM_000747.3(CHRNB1):c.1420A>G (p.Thr474Ala)
NM_000747.3(CHRNB1):c.1453G>A (p.Val485Ile) rs2150843850
NM_000747.3(CHRNB1):c.145G>A (p.Gly49Arg) rs776235550
NM_000747.3(CHRNB1):c.1472C>T (p.Thr491Met)
NM_000747.3(CHRNB1):c.1481T>C (p.Leu494Ser)
NM_000747.3(CHRNB1):c.1497del (p.Pro501fs) rs749511394
NM_000747.3(CHRNB1):c.165C>G (p.Ser55Arg)
NM_000747.3(CHRNB1):c.172C>T (p.Leu58Phe)
NM_000747.3(CHRNB1):c.185A>C (p.Gln62Pro) rs1908562302
NM_000747.3(CHRNB1):c.198+15G>T
NM_000747.3(CHRNB1):c.198+3G>T rs1555551725
NM_000747.3(CHRNB1):c.198+8C>T rs1452929919
NM_000747.3(CHRNB1):c.1A>G (p.Met1Val) rs1064795835
NM_000747.3(CHRNB1):c.214G>A (p.Glu72Lys) rs1908599255
NM_000747.3(CHRNB1):c.216G>C (p.Glu72Asp)
NM_000747.3(CHRNB1):c.233A>G (p.Tyr78Cys)
NM_000747.3(CHRNB1):c.241C>G (p.Leu81Val)
NM_000747.3(CHRNB1):c.257A>G (p.Tyr86Cys) rs1555551838
NM_000747.3(CHRNB1):c.271G>A (p.Asp91Asn)
NM_000747.3(CHRNB1):c.286G>C (p.Asp96His) rs778968747
NM_000747.3(CHRNB1):c.288C>A (p.Asp96Glu)
NM_000747.3(CHRNB1):c.290_291delinsAA (p.Gly97Glu) rs2150838192
NM_000747.3(CHRNB1):c.299C>T (p.Ser100Leu)
NM_000747.3(CHRNB1):c.301C>T (p.Leu101Phe) rs1908655813
NM_000747.3(CHRNB1):c.304C>T (p.Arg102Cys) rs953970739
NM_000747.3(CHRNB1):c.305G>T (p.Arg102Leu) rs201915086
NM_000747.3(CHRNB1):c.309C>G (p.Ile103Met)
NM_000747.3(CHRNB1):c.327G>C (p.Trp109Cys)
NM_000747.3(CHRNB1):c.347T>C (p.Leu116Pro) rs1460616970
NM_000747.3(CHRNB1):c.353+5_353+7del
NM_000747.3(CHRNB1):c.354C>T (p.Asn118=)
NM_000747.3(CHRNB1):c.361G>C (p.Gly121Arg) rs1908667282
NM_000747.3(CHRNB1):c.386T>C (p.Ile129Thr) rs762779280
NM_000747.3(CHRNB1):c.398T>C (p.Val133Ala) rs1028135504
NM_000747.3(CHRNB1):c.404C>T (p.Ser135Phe)
NM_000747.3(CHRNB1):c.406G>T (p.Asp136Tyr)
NM_000747.3(CHRNB1):c.427C>A (p.Pro143Thr)
NM_000747.3(CHRNB1):c.433G>A (p.Gly145Ser)
NM_000747.3(CHRNB1):c.485G>C (p.Trp162Ser)
NM_000747.3(CHRNB1):c.504G>T (p.Val168=)
NM_000747.3(CHRNB1):c.506T>G (p.Phe169Cys) rs1567677415
NM_000747.3(CHRNB1):c.512C>G (p.Ser171Cys)
NM_000747.3(CHRNB1):c.515A>G (p.Tyr172Cys)
NM_000747.3(CHRNB1):c.523G>A (p.Asp175Asn)
NM_000747.3(CHRNB1):c.557G>A (p.Gly186Asp)
NM_000747.3(CHRNB1):c.58+4A>G
NM_000747.3(CHRNB1):c.59-3_60dup
NM_000747.3(CHRNB1):c.593A>C (p.His198Pro)
NM_000747.3(CHRNB1):c.631A>G (p.Ile211Val) rs1908757011
NM_000747.3(CHRNB1):c.667G>A (p.Asp223Asn)
NM_000747.3(CHRNB1):c.670C>A (p.Pro224Thr)
NM_000747.3(CHRNB1):c.686_687insGGG (p.Gly230dup) rs1908762515
NM_000747.3(CHRNB1):c.689G>A (p.Gly230Glu)
NM_000747.3(CHRNB1):c.695G>A (p.Arg232His)
NM_000747.3(CHRNB1):c.695G>T (p.Arg232Leu) rs202080837
NM_000747.3(CHRNB1):c.715C>T (p.Leu239Phe)
NM_000747.3(CHRNB1):c.719T>A (p.Ile240Asn) rs2150839386
NM_000747.3(CHRNB1):c.71C>T (p.Ser24Leu)
NM_000747.3(CHRNB1):c.725G>T (p.Arg242Leu) rs79220301
NM_000747.3(CHRNB1):c.731_732delinsC (p.Lys244fs) rs2150839407
NM_000747.3(CHRNB1):c.754G>T (p.Val252Phe) rs751045224
NM_000747.3(CHRNB1):c.766T>C (p.Cys256Arg)
NM_000747.3(CHRNB1):c.775A>T (p.Ile259Phe) rs1908768345
NM_000747.3(CHRNB1):c.793T>G (p.Phe265Val) rs1908769177
NM_000747.3(CHRNB1):c.796G>A (p.Val266Ile)
NM_000747.3(CHRNB1):c.801C>G (p.Phe267Leu) rs1908769664
NM_000747.3(CHRNB1):c.808C>A (p.Pro270Thr) rs749302262
NM_000747.3(CHRNB1):c.859C>G (p.Leu287Val)
NM_000747.3(CHRNB1):c.901A>G (p.Thr301Ala)
NM_000747.3(CHRNB1):c.92G>A (p.Arg31Gln)
NM_000747.3(CHRNB1):c.956T>C (p.Val319Ala) rs1908998622
NM_000747.3(CHRNB1):c.959C>T (p.Thr320Ile)
NM_000747.3(CHRNB1):c.963C>G (p.Phe321Leu)
NM_000747.3(CHRNB1):c.979G>A (p.Val327Ile)
NM_000747.3(CHRNB1):c.982G>A (p.Val328Met) rs865958957

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