ClinVar Miner

List of variants in gene CHRNB2 reported as likely benign for autosomal dominant nocturnal frontal lobe epilepsy

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 201
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HGVS dbSNP gnomAD frequency
NM_000748.3(CHRNB2):c.1233G>A (p.Ala411=) rs55857552 0.00330
NM_000748.3(CHRNB2):c.1235G>A (p.Gly412Asp) rs112585933 0.00133
NM_000748.3(CHRNB2):c.1432T>C (p.Phe478Leu) rs79137415 0.00084
NM_000748.3(CHRNB2):c.77C>T (p.Thr26Met) rs71651692 0.00054
NM_000748.3(CHRNB2):c.1128C>T (p.Leu376=) rs113116986 0.00024
NM_000748.3(CHRNB2):c.1234G>A (p.Gly412Ser) rs774449832 0.00016
NM_000748.3(CHRNB2):c.1339-6A>T rs200177119 0.00009
NM_000748.3(CHRNB2):c.1488C>T (p.His496=) rs200582284 0.00008
NM_000748.3(CHRNB2):c.825G>A (p.Ala275=) rs140739605 0.00007
NM_000748.3(CHRNB2):c.1359C>T (p.Tyr453=) rs761717685 0.00006
NM_000748.3(CHRNB2):c.272G>A (p.Arg91His) rs144508607 0.00006
NM_000748.3(CHRNB2):c.1236C>T (p.Gly412=) rs767533378 0.00005
NM_000748.3(CHRNB2):c.210+10G>A rs200196583 0.00005
NM_000748.3(CHRNB2):c.348T>C (p.Asp116=) rs78921047 0.00005
NM_000748.3(CHRNB2):c.780C>T (p.Ser260=) rs369234693 0.00005
NM_000748.3(CHRNB2):c.1073G>A (p.Arg358His) rs770156397 0.00004
NM_000748.3(CHRNB2):c.1157C>G (p.Ser386Cys) rs542041934 0.00004
NM_000748.3(CHRNB2):c.122G>A (p.Arg41His) rs199999862 0.00004
NM_000748.3(CHRNB2):c.1413C>T (p.Val471=) rs772270570 0.00004
NM_000748.3(CHRNB2):c.201C>T (p.Leu67=) rs773706734 0.00004
NM_000748.3(CHRNB2):c.447C>T (p.Ala149=) rs755205867 0.00004
NM_000748.3(CHRNB2):c.594A>G (p.Thr198=) rs749930516 0.00004
NM_000748.3(CHRNB2):c.105T>A (p.His35Gln) rs141689121 0.00003
NM_000748.3(CHRNB2):c.1338+10G>A rs903039235 0.00003
NM_000748.3(CHRNB2):c.321C>G (p.Leu107=) rs375527798 0.00003
NM_000748.3(CHRNB2):c.432C>T (p.Phe144=) rs199536721 0.00003
NM_000748.3(CHRNB2):c.64+14G>T rs187976777 0.00003
NM_000748.3(CHRNB2):c.1035G>T (p.Ala345=) rs778458803 0.00002
NM_000748.3(CHRNB2):c.1080C>A (p.Arg360=) rs1180459670 0.00002
NM_000748.3(CHRNB2):c.1091G>A (p.Arg364Gln) rs751625142 0.00002
NM_000748.3(CHRNB2):c.1146A>G (p.Pro382=) rs201986342 0.00002
NM_000748.3(CHRNB2):c.1305A>G (p.Ala435=) rs1464819058 0.00002
NM_000748.3(CHRNB2):c.211-20G>C rs768075022 0.00002
NM_000748.3(CHRNB2):c.453C>T (p.Tyr151=) rs781506269 0.00002
NM_000748.3(CHRNB2):c.65-9C>T rs774799731 0.00002
NM_000748.3(CHRNB2):c.891C>T (p.Val297=) rs750455908 0.00002
NM_000748.3(CHRNB2):c.945C>T (p.Ser315=) rs199549612 0.00002
NM_000748.3(CHRNB2):c.1032C>T (p.Pro344=) rs374720331 0.00001
NM_000748.3(CHRNB2):c.1041C>T (p.Leu347=) rs372224633 0.00001
NM_000748.3(CHRNB2):c.1050G>A (p.Gln350=) rs747589095 0.00001
NM_000748.3(CHRNB2):c.1068C>T (p.Cys356=) rs762237464 0.00001
NM_000748.3(CHRNB2):c.1087C>T (p.Leu363=) rs201040879 0.00001
NM_000748.3(CHRNB2):c.1110C>G (p.Arg370=) rs763983504 0.00001
NM_000748.3(CHRNB2):c.1116C>T (p.Gly372=) rs1402931071 0.00001
NM_000748.3(CHRNB2):c.1119T>C (p.Ala373=) rs1358610972 0.00001
NM_000748.3(CHRNB2):c.1152C>T (p.Ala384=) rs746495548 0.00001
NM_000748.3(CHRNB2):c.1167C>T (p.Cys389=) rs1274247405 0.00001
NM_000748.3(CHRNB2):c.1239C>T (p.Pro413=) rs372757638 0.00001
NM_000748.3(CHRNB2):c.1257G>T (p.Pro419=) rs199743038 0.00001
NM_000748.3(CHRNB2):c.1281G>A (p.Ala427=) rs1326707359 0.00001
NM_000748.3(CHRNB2):c.1287C>T (p.Asp429=) rs1057524461 0.00001
NM_000748.3(CHRNB2):c.1308C>T (p.Asp436=) rs1057524421 0.00001
NM_000748.3(CHRNB2):c.1329T>C (p.Asp443=) rs1451511201 0.00001
NM_000748.3(CHRNB2):c.1339-7C>T rs1350349505 0.00001
NM_000748.3(CHRNB2):c.1380C>T (p.Arg460=) rs373985042 0.00001
NM_000748.3(CHRNB2):c.1381C>T (p.Leu461Phe) rs1206411079 0.00001
NM_000748.3(CHRNB2):c.1425C>T (p.Ile475=) rs773226966 0.00001
NM_000748.3(CHRNB2):c.1461C>T (p.Thr487=) rs1696263685 0.00001
NM_000748.3(CHRNB2):c.1476C>T (p.Leu492=) rs1167152631 0.00001
NM_000748.3(CHRNB2):c.1497C>T (p.Pro499=) rs768798015 0.00001
NM_000748.3(CHRNB2):c.210+15C>T rs1246189959 0.00001
NM_000748.3(CHRNB2):c.213T>G (p.His71Gln) rs763194096 0.00001
NM_000748.3(CHRNB2):c.255+15T>G rs374367624 0.00001
NM_000748.3(CHRNB2):c.270T>C (p.Tyr90=) rs751365875 0.00001
NM_000748.3(CHRNB2):c.294G>A (p.Glu98=) rs367899705 0.00001
NM_000748.3(CHRNB2):c.342C>T (p.Leu114=) rs1250849813 0.00001
NM_000748.3(CHRNB2):c.366-13C>G rs768920657 0.00001
NM_000748.3(CHRNB2):c.366-17T>C rs747237652 0.00001
NM_000748.3(CHRNB2):c.405C>T (p.Ala135=) rs777250519 0.00001
NM_000748.3(CHRNB2):c.429C>T (p.Ile143=) rs369264665 0.00001
NM_000748.3(CHRNB2):c.459C>T (p.Ser153=) rs538508561 0.00001
NM_000748.3(CHRNB2):c.615C>T (p.Ile205=) rs202243284 0.00001
NM_000748.3(CHRNB2):c.627G>A (p.Pro209=) rs752968150 0.00001
NM_000748.3(CHRNB2):c.639C>T (p.Asn213=) rs772174020 0.00001
NM_000748.3(CHRNB2):c.648C>T (p.Pro216=) rs370886747 0.00001
NM_000748.3(CHRNB2):c.651C>T (p.Asp217=) rs1425961412 0.00001
NM_000748.3(CHRNB2):c.669C>T (p.Asp223=) rs1557851605 0.00001
NM_000748.3(CHRNB2):c.729C>T (p.Ile243=) rs1696165036 0.00001
NM_000748.3(CHRNB2):c.75T>C (p.Gly25=) rs764498388 0.00001
NM_000748.3(CHRNB2):c.772C>T (p.Leu258=) rs201514209 0.00001
NM_000748.3(CHRNB2):c.960C>T (p.Asn320=) rs1434865319 0.00001
NM_000748.3(CHRNB2):c.966C>T (p.His322=) rs1411254585 0.00001
NM_000748.3(CHRNB2):c.990C>T (p.Thr330=) rs201825924 0.00001
NM_000748.3(CHRNB2):c.991A>G (p.Met331Val) rs1207496178 0.00001
NM_000748.3(CHRNB2):c.1008G>A (p.Lys336=) rs779023843
NM_000748.3(CHRNB2):c.1011C>A (p.Val337=) rs766422414
NM_000748.3(CHRNB2):c.1018C>T (p.Leu340=) rs2101521714
NM_000748.3(CHRNB2):c.1035_1036delinsTT (p.Ala345_Leu346=) rs1571022654
NM_000748.3(CHRNB2):c.1089G>A (p.Leu363=) rs930562574
NM_000748.3(CHRNB2):c.108C>T (p.Leu36=) rs2149366138
NM_000748.3(CHRNB2):c.1093C>A (p.Arg365=) rs1448656942
NM_000748.3(CHRNB2):c.1098C>A (p.Arg366=)
NM_000748.3(CHRNB2):c.1140A>G (p.Glu380=)
NM_000748.3(CHRNB2):c.1146A>C (p.Pro382=) rs201986342
NM_000748.3(CHRNB2):c.1146A>T (p.Pro382=)
NM_000748.3(CHRNB2):c.1152C>A (p.Ala384=) rs746495548
NM_000748.3(CHRNB2):c.1176C>T (p.Asn392=) rs560427247
NM_000748.3(CHRNB2):c.1180G>A (p.Ala394Thr) rs1557852162
NM_000748.3(CHRNB2):c.1182G>C (p.Ala394=) rs1202541446
NM_000748.3(CHRNB2):c.1185G>C (p.Ser395=)
NM_000748.3(CHRNB2):c.1185G>T (p.Ser395=) rs2101522391
NM_000748.3(CHRNB2):c.1194G>A (p.Gly398=) rs2101522454
NM_000748.3(CHRNB2):c.1194G>C (p.Gly398=) rs2101522454
NM_000748.3(CHRNB2):c.1194G>T (p.Gly398=)
NM_000748.3(CHRNB2):c.1200C>G (p.Ala400=) rs1020120934
NM_000748.3(CHRNB2):c.1215T>A (p.Ala405=)
NM_000748.3(CHRNB2):c.1215T>C (p.Ala405=)
NM_000748.3(CHRNB2):c.1221T>A (p.Pro407=)
NM_000748.3(CHRNB2):c.1239C>G (p.Pro413=) rs372757638
NM_000748.3(CHRNB2):c.123C>A (p.Arg41=) rs201171352
NM_000748.3(CHRNB2):c.123C>T (p.Arg41=) rs201171352
NM_000748.3(CHRNB2):c.1242G>C (p.Gly414=) rs1553204404
NM_000748.3(CHRNB2):c.1257G>A (p.Pro419=) rs199743038
NM_000748.3(CHRNB2):c.1275G>C (p.Arg425=)
NM_000748.3(CHRNB2):c.1290C>T (p.Gly430=)
NM_000748.3(CHRNB2):c.1299C>T (p.Phe433=)
NM_000748.3(CHRNB2):c.129C>T (p.Asn43=)
NM_000748.3(CHRNB2):c.1338+10G>T rs903039235
NM_000748.3(CHRNB2):c.1339-15G>A rs756629260
NM_000748.3(CHRNB2):c.1341G>T (p.Val447=)
NM_000748.3(CHRNB2):c.1362C>T (p.Val454=)
NM_000748.3(CHRNB2):c.1365C>T (p.Ala455=) rs1374756061
NM_000748.3(CHRNB2):c.1372A>G (p.Ile458Val) rs751272610
NM_000748.3(CHRNB2):c.1374C>T (p.Ile458=)
NM_000748.3(CHRNB2):c.1378C>G (p.Arg460Gly) rs202079239
NM_000748.3(CHRNB2):c.138C>T (p.Ile46=) rs775128215
NM_000748.3(CHRNB2):c.1395C>T (p.Ile465=)
NM_000748.3(CHRNB2):c.1458C>T (p.Tyr486=)
NM_000748.3(CHRNB2):c.1470C>T (p.Thr490=)
NM_000748.3(CHRNB2):c.177G>A (p.Gln59=)
NM_000748.3(CHRNB2):c.210+18del
NM_000748.3(CHRNB2):c.210+3G>A rs1571020415
NM_000748.3(CHRNB2):c.211-15T>C
NM_000748.3(CHRNB2):c.211-6C>T
NM_000748.3(CHRNB2):c.211-7C>A
NM_000748.3(CHRNB2):c.211-8C>T
NM_000748.3(CHRNB2):c.240T>C (p.Asn80=) rs1571020620
NM_000748.3(CHRNB2):c.247C>T (p.Leu83=)
NM_000748.3(CHRNB2):c.255+13G>A
NM_000748.3(CHRNB2):c.255+16C>T
NM_000748.3(CHRNB2):c.255+7G>A rs190374968
NM_000748.3(CHRNB2):c.256-10C>G rs1696137209
NM_000748.3(CHRNB2):c.256-10C>T rs1696137209
NM_000748.3(CHRNB2):c.256-15T>C
NM_000748.3(CHRNB2):c.256-17C>A
NM_000748.3(CHRNB2):c.315T>C (p.Val105=) rs1571020906
NM_000748.3(CHRNB2):c.318G>A (p.Arg106=) rs1571020924
NM_000748.3(CHRNB2):c.321C>T (p.Leu107=)
NM_000748.3(CHRNB2):c.333C>T (p.His111=)
NM_000748.3(CHRNB2):c.360C>T (p.Tyr120=) rs867870791
NM_000748.3(CHRNB2):c.360CAA[1] (p.Asn122del) rs796052329
NM_000748.3(CHRNB2):c.365+13G>A
NM_000748.3(CHRNB2):c.365+19T>C
NM_000748.3(CHRNB2):c.393C>T (p.Phe131=)
NM_000748.3(CHRNB2):c.402T>C (p.Asn134=) rs760458701
NM_000748.3(CHRNB2):c.405C>G (p.Ala135=) rs777250519
NM_000748.3(CHRNB2):c.411C>T (p.Val137=)
NM_000748.3(CHRNB2):c.42C>T (p.Phe14=) rs770555906
NM_000748.3(CHRNB2):c.441G>A (p.Pro147=) rs780464481
NM_000748.3(CHRNB2):c.456G>A (p.Lys152=) rs2101520375
NM_000748.3(CHRNB2):c.462A>G (p.Ala154=)
NM_000748.3(CHRNB2):c.498G>A (p.Gln166=) rs2101520429
NM_000748.3(CHRNB2):c.531C>A (p.Thr177=) rs2101520486
NM_000748.3(CHRNB2):c.534C>T (p.Tyr178=) rs1211673895
NM_000748.3(CHRNB2):c.549C>A (p.Ile183=) rs776372933
NM_000748.3(CHRNB2):c.549C>T (p.Ile183=) rs776372933
NM_000748.3(CHRNB2):c.54G>A (p.Arg18=)
NM_000748.3(CHRNB2):c.54G>T (p.Arg18=) rs1486696741
NM_000748.3(CHRNB2):c.57G>A (p.Leu19=) rs2149365770
NM_000748.3(CHRNB2):c.60C>T (p.Cys20=)
NM_000748.3(CHRNB2):c.622C>T (p.Leu208=) rs906389720
NM_000748.3(CHRNB2):c.64+13C>T
NM_000748.3(CHRNB2):c.64+17C>T
NM_000748.3(CHRNB2):c.64+9A>G
NM_000748.3(CHRNB2):c.645C>T (p.Asn215=)
NM_000748.3(CHRNB2):c.648C>G (p.Pro216=) rs370886747
NM_000748.3(CHRNB2):c.660G>A (p.Thr220=)
NM_000748.3(CHRNB2):c.663C>T (p.Tyr221=)
NM_000748.3(CHRNB2):c.675G>A (p.Thr225=) rs994716085
NM_000748.3(CHRNB2):c.675G>C (p.Thr225=) rs994716085
NM_000748.3(CHRNB2):c.678T>C (p.Tyr226=) rs1473412414
NM_000748.3(CHRNB2):c.690T>C (p.Ile230=) rs2101520893
NM_000748.3(CHRNB2):c.693C>G (p.Arg231=) rs2101520907
NM_000748.3(CHRNB2):c.69G>A (p.Val23=) rs1696121294
NM_000748.3(CHRNB2):c.702G>A (p.Pro234=) rs200050755
NM_000748.3(CHRNB2):c.708C>T (p.Phe236=) rs71628622
NM_000748.3(CHRNB2):c.726C>T (p.Ile242=)
NM_000748.3(CHRNB2):c.756C>T (p.Ala252=)
NM_000748.3(CHRNB2):c.78G>A (p.Thr26=) rs143402032
NM_000748.3(CHRNB2):c.78G>T (p.Thr26=)
NM_000748.3(CHRNB2):c.801G>A (p.Thr267=) rs200331379
NM_000748.3(CHRNB2):c.801G>C (p.Thr267=)
NM_000748.3(CHRNB2):c.819G>C (p.Leu273=) rs745793301
NM_000748.3(CHRNB2):c.846C>T (p.Leu282=) rs1322383536
NM_000748.3(CHRNB2):c.885G>A (p.Pro295=)
NM_000748.3(CHRNB2):c.918G>A (p.Val306=)
NM_000748.3(CHRNB2):c.91C>A (p.Arg31=) rs145926853
NM_000748.3(CHRNB2):c.951C>T (p.Cys317=)
NM_000748.3(CHRNB2):c.984G>C (p.Thr328=)
NM_000748.3(CHRNB2):c.990C>A (p.Thr330=)
NM_000748.3(CHRNB2):c.996G>A (p.Ala332=) rs762184252

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