ClinVar Miner

List of variants in gene CHRNB2 reported as uncertain significance for Autosomal dominant nocturnal frontal lobe epilepsy

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Gene type:
ClinVar version:
Total variants: 237
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HGVS dbSNP gnomAD frequency
NM_000748.3(CHRNB2):c.1046T>C (p.Met349Thr) rs141735618 0.00010
NM_000748.3(CHRNB2):c.1084C>T (p.Arg362Cys) rs199928622 0.00009
NM_000748.3(CHRNB2):c.1103G>T (p.Arg368Leu) rs202114705 0.00006
NM_000748.3(CHRNB2):c.1273C>T (p.Arg425Trp) rs77710036 0.00005
NM_000748.3(CHRNB2):c.1069G>T (p.Ala357Ser) rs1421654764 0.00004
NM_000748.3(CHRNB2):c.1117G>A (p.Ala373Thr) rs778714852 0.00004
NM_000748.3(CHRNB2):c.1315C>T (p.Arg439Trp) rs945492622 0.00004
NM_000748.3(CHRNB2):c.538C>T (p.Arg180Cys) rs1469333218 0.00004
NM_000748.3(CHRNB2):c.695G>A (p.Arg232His) rs79646221 0.00004
NM_000748.3(CHRNB2):c.983C>T (p.Thr328Met) rs145893879 0.00004
NM_000748.3(CHRNB2):c.1061A>C (p.His354Pro) rs201793956 0.00003
NM_000748.3(CHRNB2):c.1226C>T (p.Pro409Leu) rs1303546196 0.00003
NM_000748.3(CHRNB2):c.139C>T (p.Arg47Cys) rs746480833 0.00003
NM_000748.3(CHRNB2):c.316C>T (p.Arg106Trp) rs372273025 0.00003
NM_000748.3(CHRNB2):c.460G>A (p.Ala154Thr) rs769929506 0.00003
NM_000748.3(CHRNB2):c.1034C>T (p.Ala345Val) rs141511378 0.00002
NM_000748.3(CHRNB2):c.1114G>A (p.Gly372Ser) rs753731408 0.00002
NM_000748.3(CHRNB2):c.1314G>A (p.Met438Ile) rs200910048 0.00002
NM_000748.3(CHRNB2):c.329A>C (p.Lys110Thr) rs199885651 0.00002
NM_000748.3(CHRNB2):c.640G>A (p.Glu214Lys) rs780175030 0.00002
NM_000748.3(CHRNB2):c.734del (p.Cys245fs) rs780184576 0.00002
NM_000748.3(CHRNB2):c.1040T>A (p.Leu347His) rs368787419 0.00001
NM_000748.3(CHRNB2):c.1058G>A (p.Arg353His) rs200924076 0.00001
NM_000748.3(CHRNB2):c.1082T>C (p.Leu361Pro) rs1226774233 0.00001
NM_000748.3(CHRNB2):c.1115G>A (p.Gly372Asp) rs757023317 0.00001
NM_000748.3(CHRNB2):c.1126C>T (p.Leu376Phe) rs1286192889 0.00001
NM_000748.3(CHRNB2):c.1136G>C (p.Arg379Pro) rs1440128191 0.00001
NM_000748.3(CHRNB2):c.1153G>A (p.Asp385Asn) rs932622161 0.00001
NM_000748.3(CHRNB2):c.1161C>A (p.Cys387Ter) rs1409415937 0.00001
NM_000748.3(CHRNB2):c.1199C>A (p.Ala400Asp) rs1020953003 0.00001
NM_000748.3(CHRNB2):c.1201G>A (p.Gly401Arg) rs902984484 0.00001
NM_000748.3(CHRNB2):c.1204G>A (p.Ala402Thr) rs199658508 0.00001
NM_000748.3(CHRNB2):c.1207T>G (p.Phe403Val) rs1166872057 0.00001
NM_000748.3(CHRNB2):c.1231G>C (p.Ala411Pro) rs1225745274 0.00001
NM_000748.3(CHRNB2):c.1250G>A (p.Gly417Glu) rs1191094208 0.00001
NM_000748.3(CHRNB2):c.1253A>G (p.Glu418Gly) rs1475853887 0.00001
NM_000748.3(CHRNB2):c.1291G>C (p.Val431Leu) rs1064796396 0.00001
NM_000748.3(CHRNB2):c.1295G>C (p.Arg432Pro) rs747248135 0.00001
NM_000748.3(CHRNB2):c.1312A>G (p.Met438Val) rs916448473 0.00001
NM_000748.3(CHRNB2):c.1319G>A (p.Ser440Asn) rs1187024375 0.00001
NM_000748.3(CHRNB2):c.1320C>A (p.Ser440Arg) rs1049048240 0.00001
NM_000748.3(CHRNB2):c.1338+3G>T rs886348487 0.00001
NM_000748.3(CHRNB2):c.1338C>T (p.Ser446=) rs201462348 0.00001
NM_000748.3(CHRNB2):c.1360G>A (p.Val454Ile) rs765202298 0.00001
NM_000748.3(CHRNB2):c.1375G>A (p.Asp459Asn) rs140505576 0.00001
NM_000748.3(CHRNB2):c.1415T>C (p.Phe472Ser) rs200855905 0.00001
NM_000748.3(CHRNB2):c.1423A>C (p.Ile475Leu) rs202135710 0.00001
NM_000748.3(CHRNB2):c.1459A>G (p.Thr487Ala) rs1420884732 0.00001
NM_000748.3(CHRNB2):c.149C>T (p.Thr50Ile) rs762363770 0.00001
NM_000748.3(CHRNB2):c.170C>T (p.Thr57Ile) rs1483069937 0.00001
NM_000748.3(CHRNB2):c.217C>T (p.Arg73Trp) rs771286419 0.00001
NM_000748.3(CHRNB2):c.255+6C>T rs754415116 0.00001
NM_000748.3(CHRNB2):c.271C>T (p.Arg91Cys) rs754725293 0.00001
NM_000748.3(CHRNB2):c.277A>T (p.Thr93Ser) rs752355994 0.00001
NM_000748.3(CHRNB2):c.317G>A (p.Arg106Gln) rs779199533 0.00001
NM_000748.3(CHRNB2):c.366-3C>T rs1382302930 0.00001
NM_000748.3(CHRNB2):c.373G>A (p.Gly125Ser) rs922186544 0.00001
NM_000748.3(CHRNB2):c.406G>A (p.Val136Met) rs763776515 0.00001
NM_000748.3(CHRNB2):c.515A>G (p.Lys172Arg) rs1330894666 0.00001
NM_000748.3(CHRNB2):c.539G>A (p.Arg180His) rs768297928 0.00001
NM_000748.3(CHRNB2):c.546G>T (p.Glu182Asp) rs199696100 0.00001
NM_000748.3(CHRNB2):c.604G>A (p.Glu202Lys) rs1260932072 0.00001
NM_000748.3(CHRNB2):c.620C>T (p.Ala207Val) rs201622476 0.00001
NM_000748.3(CHRNB2):c.634C>T (p.Arg212Cys) rs572595325 0.00001
NM_000748.3(CHRNB2):c.646C>T (p.Pro216Ser) rs200796605 0.00001
NM_000748.3(CHRNB2):c.658A>C (p.Thr220Pro) rs374183227 0.00001
NM_000748.3(CHRNB2):c.659C>T (p.Thr220Met) rs796052326 0.00001
NM_000748.3(CHRNB2):c.691C>T (p.Arg231Cys) rs752986234 0.00001
NM_000748.3(CHRNB2):c.694C>T (p.Arg232Cys) rs756406057 0.00001
NM_000748.3(CHRNB2):c.788G>A (p.Gly263Asp) rs373676452 0.00001
NM_000748.3(CHRNB2):c.794A>T (p.Lys265Met) rs1696166155 0.00001
NM_000748.3(CHRNB2):c.797T>C (p.Met266Thr) rs113672425 0.00001
NM_000748.3(CHRNB2):c.88G>A (p.Glu30Lys) rs199919525 0.00001
NM_000748.3(CHRNB2):c.892G>A (p.Gly298Ser) rs754992449 0.00001
NM_000748.3(CHRNB2):c.910A>G (p.Thr304Ala) rs780962241 0.00001
NM_000748.3(CHRNB2):c.92G>A (p.Arg31Gln) rs758492974 0.00001
NM_000748.3(CHRNB2):c.968A>G (p.His323Arg) rs201004255 0.00001
NM_000748.3(CHRNB2):c.1003G>A (p.Val335Met)
NM_000748.3(CHRNB2):c.1017C>A (p.Phe339Leu) rs756041212
NM_000748.3(CHRNB2):c.1033G>A (p.Ala345Thr) rs927693883
NM_000748.3(CHRNB2):c.1040T>C (p.Leu347Pro)
NM_000748.3(CHRNB2):c.1049A>G (p.Gln350Arg)
NM_000748.3(CHRNB2):c.106C>T (p.Leu36Phe) rs1557850747
NM_000748.3(CHRNB2):c.1073G>C (p.Arg358Pro)
NM_000748.3(CHRNB2):c.1078C>T (p.Arg360Cys) rs2101521916
NM_000748.3(CHRNB2):c.1080CCTGCG[3] (p.361LR[3]) rs781654245
NM_000748.3(CHRNB2):c.1088_1093dup (p.361LR[3]) rs2101521963
NM_000748.3(CHRNB2):c.1094G>T (p.Arg365Leu)
NM_000748.3(CHRNB2):c.1096C>T (p.Arg366Cys)
NM_000748.3(CHRNB2):c.1097_1099dup (p.Arg366_Gln367insArg)
NM_000748.3(CHRNB2):c.1100A>G (p.Gln367Arg)
NM_000748.3(CHRNB2):c.1102C>G (p.Arg368Gly)
NM_000748.3(CHRNB2):c.1109G>A (p.Arg370His) rs200483865
NM_000748.3(CHRNB2):c.1111G>A (p.Glu371Lys) rs1696175893
NM_000748.3(CHRNB2):c.1111_1118del (p.Glu371fs)
NM_000748.3(CHRNB2):c.1126C>G (p.Leu376Val)
NM_000748.3(CHRNB2):c.1150G>A (p.Ala384Thr) rs2101522239
NM_000748.3(CHRNB2):c.1169T>C (p.Phe390Ser) rs2101522326
NM_000748.3(CHRNB2):c.1171G>C (p.Val391Leu) rs770055798
NM_000748.3(CHRNB2):c.1176C>A (p.Asn392Lys) rs560427247
NM_000748.3(CHRNB2):c.1190A>C (p.Gln397Pro)
NM_000748.3(CHRNB2):c.1190A>G (p.Gln397Arg) rs200441832
NM_000748.3(CHRNB2):c.1210G>C (p.Gly404Arg)
NM_000748.3(CHRNB2):c.121C>T (p.Arg41Cys) rs1174834370
NM_000748.3(CHRNB2):c.1240G>A (p.Gly414Arg) rs1024048381
NM_000748.3(CHRNB2):c.1240G>C (p.Gly414Arg) rs1024048381
NM_000748.3(CHRNB2):c.1244G>A (p.Arg415His) rs971173003
NM_000748.3(CHRNB2):c.1244G>C (p.Arg415Pro)
NM_000748.3(CHRNB2):c.1249G>A (p.Gly417Arg) rs1057520852
NM_000748.3(CHRNB2):c.1252G>T (p.Glu418Ter) rs1375045864
NM_000748.3(CHRNB2):c.1256C>A (p.Pro419Gln) rs908723251
NM_000748.3(CHRNB2):c.1270C>T (p.Leu424Phe) rs2101522745
NM_000748.3(CHRNB2):c.1282G>A (p.Val428Met)
NM_000748.3(CHRNB2):c.1285G>A (p.Asp429Asn)
NM_000748.3(CHRNB2):c.1288G>C (p.Gly430Arg)
NM_000748.3(CHRNB2):c.1300A>T (p.Ile434Phe) rs1171180526
NM_000748.3(CHRNB2):c.1316G>A (p.Arg439Gln)
NM_000748.3(CHRNB2):c.1333C>G (p.Gln445Glu)
NM_000748.3(CHRNB2):c.1335G>C (p.Gln445His) rs1557852381
NM_000748.3(CHRNB2):c.1338_1339insTGGA (p.Val447fs)
NM_000748.3(CHRNB2):c.1343G>C (p.Ser448Thr)
NM_000748.3(CHRNB2):c.1343G>T (p.Ser448Ile) rs774575734
NM_000748.3(CHRNB2):c.1344_1347del (p.Ser448fs) rs1696260248
NM_000748.3(CHRNB2):c.1359C>G (p.Tyr453Ter) rs761717685
NM_000748.3(CHRNB2):c.1364C>T (p.Ala455Val)
NM_000748.3(CHRNB2):c.1378C>T (p.Arg460Cys) rs202079239
NM_000748.3(CHRNB2):c.1379G>A (p.Arg460His) rs1297214421
NM_000748.3(CHRNB2):c.1382T>C (p.Leu461Pro) rs1696261435
NM_000748.3(CHRNB2):c.1400T>C (p.Val467Ala)
NM_000748.3(CHRNB2):c.1402T>C (p.Phe468Leu)
NM_000748.3(CHRNB2):c.1407_1410del (p.Cys470fs) rs796052332
NM_000748.3(CHRNB2):c.1417G>A (p.Gly473Ser) rs1696262468
NM_000748.3(CHRNB2):c.1423A>G (p.Ile475Val) rs202135710
NM_000748.3(CHRNB2):c.1426G>A (p.Gly476Ser)
NM_000748.3(CHRNB2):c.1430T>C (p.Met477Thr)
NM_000748.3(CHRNB2):c.1438C>T (p.Gln480Ter)
NM_000748.3(CHRNB2):c.1439_1441del (p.Gln480del)
NM_000748.3(CHRNB2):c.1442C>T (p.Pro481Leu) rs1696263260
NM_000748.3(CHRNB2):c.1451A>G (p.Gln484Arg) rs1275049751
NM_000748.3(CHRNB2):c.146C>T (p.Ala49Val)
NM_000748.3(CHRNB2):c.1474C>T (p.Leu492Phe)
NM_000748.3(CHRNB2):c.1481C>T (p.Ser494Leu)
NM_000748.3(CHRNB2):c.1487A>C (p.His496Pro)
NM_000748.3(CHRNB2):c.1499G>A (p.Ser500Asn)
NM_000748.3(CHRNB2):c.149C>G (p.Thr50Ser) rs762363770
NM_000748.3(CHRNB2):c.1503C>G (p.Ser501=)
NM_000748.3(CHRNB2):c.152A>G (p.Asn51Ser)
NM_000748.3(CHRNB2):c.154G>A (p.Gly52Ser) rs1553204015
NM_000748.3(CHRNB2):c.166G>C (p.Val56Leu)
NM_000748.3(CHRNB2):c.175C>T (p.Gln59Ter) rs1696125297
NM_000748.3(CHRNB2):c.184G>A (p.Val62Met)
NM_000748.3(CHRNB2):c.211-3C>A
NM_000748.3(CHRNB2):c.223C>G (p.Gln75Glu) rs2149366248
NM_000748.3(CHRNB2):c.262G>A (p.Glu88Lys) rs1182581432
NM_000748.3(CHRNB2):c.281G>C (p.Trp94Ser) rs2101518911
NM_000748.3(CHRNB2):c.297del (p.Phe99fs) rs1696138351
NM_000748.3(CHRNB2):c.301A>C (p.Asn101His) rs929185848
NM_000748.3(CHRNB2):c.301A>G (p.Asn101Asp) rs929185848
NM_000748.3(CHRNB2):c.306G>A (p.Met102Ile) rs1696138605
NM_000748.3(CHRNB2):c.313G>A (p.Val105Ile)
NM_000748.3(CHRNB2):c.344C>T (p.Pro115Leu) rs2101519039
NM_000748.3(CHRNB2):c.365+2T>C rs1440177267
NM_000748.3(CHRNB2):c.366T>C (p.Asn122=) rs748227150
NM_000748.3(CHRNB2):c.401A>G (p.Asn134Ser)
NM_000748.3(CHRNB2):c.402T>A (p.Asn134Lys) rs760458701
NM_000748.3(CHRNB2):c.404C>T (p.Ala135Val) rs1060502835
NM_000748.3(CHRNB2):c.410T>G (p.Val137Gly)
NM_000748.3(CHRNB2):c.416A>G (p.Tyr139Cys)
NM_000748.3(CHRNB2):c.423C>T (p.Gly141=) rs1696159240
NM_000748.3(CHRNB2):c.448A>G (p.Ile150Val) rs1557851437
NM_000748.3(CHRNB2):c.466A>G (p.Lys156Glu)
NM_000748.3(CHRNB2):c.470T>A (p.Ile157Asn)
NM_000748.3(CHRNB2):c.481C>T (p.His161Tyr) rs1282479699
NM_000748.3(CHRNB2):c.485T>C (p.Phe162Ser) rs1696160348
NM_000748.3(CHRNB2):c.50T>A (p.Leu17His)
NM_000748.3(CHRNB2):c.520dup (p.Arg174fs)
NM_000748.3(CHRNB2):c.524C>G (p.Ser175Trp) rs75760566
NM_000748.3(CHRNB2):c.535G>A (p.Asp179Asn) rs760490640
NM_000748.3(CHRNB2):c.539G>C (p.Arg180Pro) rs768297928
NM_000748.3(CHRNB2):c.544del (p.Glu182fs)
NM_000748.3(CHRNB2):c.554T>C (p.Leu185Ser) rs1696161618
NM_000748.3(CHRNB2):c.571G>T (p.Val191Leu) rs2101520587
NM_000748.3(CHRNB2):c.578G>T (p.Ser193Ile) rs2101520597
NM_000748.3(CHRNB2):c.58T>C (p.Cys20Arg)
NM_000748.3(CHRNB2):c.593C>T (p.Thr198Ile)
NM_000748.3(CHRNB2):c.599G>A (p.Ser200Asn)
NM_000748.3(CHRNB2):c.620C>G (p.Ala207Gly) rs201622476
NM_000748.3(CHRNB2):c.626C>T (p.Pro209Leu)
NM_000748.3(CHRNB2):c.63A>G (p.Ser21=)
NM_000748.3(CHRNB2):c.64+3A>G
NM_000748.3(CHRNB2):c.648del (p.Asp217fs) rs2101520745
NM_000748.3(CHRNB2):c.649G>A (p.Asp217Asn)
NM_000748.3(CHRNB2):c.65-2A>G
NM_000748.3(CHRNB2):c.65-2del rs1696121118
NM_000748.3(CHRNB2):c.652G>A (p.Asp218Asn) rs1429118769
NM_000748.3(CHRNB2):c.653A>C (p.Asp218Ala) rs2101520790
NM_000748.3(CHRNB2):c.664G>C (p.Val222Leu) rs1453075590
NM_000748.3(CHRNB2):c.674C>G (p.Thr225Arg) rs201952018
NM_000748.3(CHRNB2):c.687C>G (p.Ile229Met) rs1244782091
NM_000748.3(CHRNB2):c.701C>T (p.Pro234Leu)
NM_000748.3(CHRNB2):c.732_733del (p.Val246fs) rs2101520989
NM_000748.3(CHRNB2):c.754G>A (p.Ala252Thr) rs2101521069
NM_000748.3(CHRNB2):c.785G>A (p.Cys262Tyr)
NM_000748.3(CHRNB2):c.790G>A (p.Glu264Lys) rs1212070745
NM_000748.3(CHRNB2):c.791AGA[1] (p.Lys265del)
NM_000748.3(CHRNB2):c.796A>T (p.Met266Leu) rs2101521127
NM_000748.3(CHRNB2):c.806_807delinsAA (p.Cys269Ter)
NM_000748.3(CHRNB2):c.811_812del (p.Val272fs)
NM_000748.3(CHRNB2):c.820del (p.Leu274fs)
NM_000748.3(CHRNB2):c.824C>T (p.Ala275Val) rs201393088
NM_000748.3(CHRNB2):c.82A>G (p.Thr28Ala) rs2149366120
NM_000748.3(CHRNB2):c.833T>C (p.Val278Ala) rs2101521195
NM_000748.3(CHRNB2):c.844C>T (p.Leu282Phe) rs1387572771
NM_000748.3(CHRNB2):c.847A>T (p.Ile283Phe) rs1388744144
NM_000748.3(CHRNB2):c.847dup (p.Ile283fs) rs2101521229
NM_000748.3(CHRNB2):c.859_867del (p.Val287_Pro289del) rs2101521275
NM_000748.3(CHRNB2):c.863C>T (p.Pro288Leu)
NM_000748.3(CHRNB2):c.877G>A (p.Asp293Asn)
NM_000748.3(CHRNB2):c.880G>A (p.Val294Met)
NM_000748.3(CHRNB2):c.884C>T (p.Pro295Leu)
NM_000748.3(CHRNB2):c.893G>A (p.Gly298Asp) rs868235334
NM_000748.3(CHRNB2):c.893G>T (p.Gly298Val) rs868235334
NM_000748.3(CHRNB2):c.911C>T (p.Thr304Ile)
NM_000748.3(CHRNB2):c.919C>A (p.Leu307Ile) rs200720061
NM_000748.3(CHRNB2):c.91C>T (p.Arg31Trp)
NM_000748.3(CHRNB2):c.929T>A (p.Phe310Tyr) rs2101521485
NM_000748.3(CHRNB2):c.930del (p.Ser311fs) rs1696170002
NM_000748.3(CHRNB2):c.937G>A (p.Val313Ile) rs770557644
NM_000748.3(CHRNB2):c.946G>T (p.Val316Leu)
NM_000748.3(CHRNB2):c.953T>C (p.Val318Ala) rs2101521543
NM_000748.3(CHRNB2):c.955C>G (p.Leu319Val)
NM_000748.3(CHRNB2):c.960C>A (p.Asn320Lys)
NM_000748.3(CHRNB2):c.961G>C (p.Val321Leu)
NM_000748.3(CHRNB2):c.970C>T (p.Arg324Cys)
NM_000748.3(CHRNB2):c.971_972delinsTA (p.Arg324Leu)
NM_000748.3(CHRNB2):c.974C>T (p.Ser325Leu) rs1571022546
NM_000748.3(CHRNB2):c.977C>T (p.Pro326Leu)

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