ClinVar Miner

List of variants in gene CHRNB2 studied for childhood-onset epilepsy syndrome

Included ClinVar conditions (91):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 461
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000748.3(CHRNB2):c.210+9A>G rs3926124 0.10829
NM_000748.3(CHRNB2):c.1338+14G>T rs4845378 0.07732
NM_000748.2(CHRNB2):c.-296G>A rs2072658 0.01801
NM_000748.3(CHRNB2):c.1191G>C (p.Gln397His) rs55685423 0.00688
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.1485C>T (p.Asp495=) rs144813907 0.00088
NM_000748.3(CHRNB2):c.1432T>C (p.Phe478Leu) rs79137415 0.00084
NM_000748.3(CHRNB2):c.1482A>G (p.Ser494=) rs8192486 0.00058
NM_000748.3(CHRNB2):c.77C>T (p.Thr26Met) rs71651692 0.00054
NM_000748.3(CHRNB2):c.150C>T (p.Thr50=) rs149921259 0.00039
NM_000748.3(CHRNB2):c.1128C>T (p.Leu376=) rs113116986 0.00024
NM_000748.3(CHRNB2):c.1407C>G (p.Val469=) rs138886952 0.00024
NM_000748.3(CHRNB2):c.1234G>A (p.Gly412Ser) rs774449832 0.00016
NM_000748.3(CHRNB2):c.483C>T (p.His161=) rs190967991 0.00016
NM_000748.3(CHRNB2):c.109C>T (p.Leu37=) rs71651693 0.00011
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.1339-6A>T rs200177119 0.00009
NM_000748.3(CHRNB2):c.1488C>T (p.His496=) rs200582284 0.00008
NM_000748.3(CHRNB2):c.211-13T>C rs201514937 0.00008
NM_000748.3(CHRNB2):c.825G>A (p.Ala275=) rs140739605 0.00007
NM_000748.3(CHRNB2):c.1103G>T (p.Arg368Leu) rs202114705 0.00006
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.1273C>T (p.Arg425Trp) rs77710036 0.00005
NM_000748.3(CHRNB2):c.1339-16C>T rs117167810 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.1069G>T (p.Ala357Ser) rs1421654764 0.00004
NM_000748.3(CHRNB2):c.1073G>A (p.Arg358His) rs770156397 0.00004
NM_000748.3(CHRNB2):c.1117G>A (p.Ala373Thr) rs778714852 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.1315C>T (p.Arg439Trp) rs945492622 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.372C>T (p.Asp124=) rs151054217 0.00004
NM_000748.3(CHRNB2):c.447C>T (p.Ala149=) rs755205867 0.00004
NM_000748.3(CHRNB2):c.538C>T (p.Arg180Cys) rs1469333218 0.00004
NM_000748.3(CHRNB2):c.594A>G (p.Thr198=) rs749930516 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.105T>A (p.His35Gln) rs141689121 0.00003
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.1338+10G>A rs903039235 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.321C>G (p.Leu107=) rs375527798 0.00003
NM_000748.3(CHRNB2):c.432C>T (p.Phe144=) rs199536721 0.00003
NM_000748.3(CHRNB2):c.460G>A (p.Ala154Thr) rs769929506 0.00003
NM_000748.3(CHRNB2):c.64+14G>T rs187976777 0.00003
NM_000748.3(CHRNB2):c.1034C>T (p.Ala345Val) rs141511378 0.00002
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.1114G>A (p.Gly372Ser) rs753731408 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.1314G>A (p.Met438Ile) rs200910048 0.00002
NM_000748.3(CHRNB2):c.211-20G>C rs768075022 0.00002
NM_000748.3(CHRNB2):c.329A>C (p.Lys110Thr) rs199885651 0.00002
NM_000748.3(CHRNB2):c.453C>T (p.Tyr151=) rs781506269 0.00002
NM_000748.3(CHRNB2):c.640G>A (p.Glu214Lys) rs780175030 0.00002
NM_000748.3(CHRNB2):c.65-9C>T rs774799731 0.00002
NM_000748.3(CHRNB2):c.734del (p.Cys245fs) rs780184576 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.1040T>A (p.Leu347His) rs368787419 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.1058G>A (p.Arg353His) rs200924076 0.00001
NM_000748.3(CHRNB2):c.1068C>T (p.Cys356=) rs762237464 0.00001
NM_000748.3(CHRNB2):c.1082T>C (p.Leu361Pro) rs1226774233 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.1115G>A (p.Gly372Asp) rs757023317 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.1126C>T (p.Leu376Phe) rs1286192889 0.00001
NM_000748.3(CHRNB2):c.1136G>C (p.Arg379Pro) rs1440128191 0.00001
NM_000748.3(CHRNB2):c.1152C>T (p.Ala384=) rs746495548 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.1167C>T (p.Cys389=) rs1274247405 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.1239C>T (p.Pro413=) rs372757638 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.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.1291G>C (p.Val431Leu) rs1064796396 0.00001
NM_000748.3(CHRNB2):c.1295G>C (p.Arg432Pro) rs747248135 0.00001
NM_000748.3(CHRNB2):c.1308C>T (p.Asp436=) rs1057524421 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.1329T>C (p.Asp443=) rs1451511201 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.1339-7C>T rs1350349505 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.1380C>T (p.Arg460=) rs373985042 0.00001
NM_000748.3(CHRNB2):c.1381C>T (p.Leu461Phe) rs1206411079 0.00001
NM_000748.3(CHRNB2):c.140G>A (p.Arg47His) rs769249583 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.1425C>T (p.Ile475=) rs773226966 0.00001
NM_000748.3(CHRNB2):c.1459A>G (p.Thr487Ala) rs1420884732 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.149C>T (p.Thr50Ile) rs762363770 0.00001
NM_000748.3(CHRNB2):c.170C>T (p.Thr57Ile) rs1483069937 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.217C>T (p.Arg73Trp) rs771286419 0.00001
NM_000748.3(CHRNB2):c.255+15T>G rs374367624 0.00001
NM_000748.3(CHRNB2):c.255+6C>T rs754415116 0.00001
NM_000748.3(CHRNB2):c.270T>C (p.Tyr90=) rs751365875 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.294G>A (p.Glu98=) rs367899705 0.00001
NM_000748.3(CHRNB2):c.317G>A (p.Arg106Gln) rs779199533 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.366-3C>T rs1382302930 0.00001
NM_000748.3(CHRNB2):c.373G>A (p.Gly125Ser) rs922186544 0.00001
NM_000748.3(CHRNB2):c.405C>T (p.Ala135=) rs777250519 0.00001
NM_000748.3(CHRNB2):c.406G>A (p.Val136Met) rs763776515 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.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.615C>T (p.Ile205=) rs202243284 0.00001
NM_000748.3(CHRNB2):c.620C>T (p.Ala207Val) rs201622476 0.00001
NM_000748.3(CHRNB2):c.627G>A (p.Pro209=) rs752968150 0.00001
NM_000748.3(CHRNB2):c.634C>T (p.Arg212Cys) rs572595325 0.00001
NM_000748.3(CHRNB2):c.639C>T (p.Asn213=) rs772174020 0.00001
NM_000748.3(CHRNB2):c.646C>T (p.Pro216Ser) rs200796605 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.658A>C (p.Thr220Pro) rs374183227 0.00001
NM_000748.3(CHRNB2):c.659C>T (p.Thr220Met) rs796052326 0.00001
NM_000748.3(CHRNB2):c.669C>T (p.Asp223=) rs1557851605 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.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.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.960C>T (p.Asn320=) rs1434865319 0.00001
NM_000748.3(CHRNB2):c.966C>T (p.His322=) rs1411254585 0.00001
NM_000748.3(CHRNB2):c.968A>G (p.His323Arg) rs201004255 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.1003G>A (p.Val335Met)
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.1017C>A (p.Phe339Leu) rs756041212
NM_000748.3(CHRNB2):c.1018C>T (p.Leu340=) rs2101521714
NM_000748.3(CHRNB2):c.1033G>A (p.Ala345Thr) rs927693883
NM_000748.3(CHRNB2):c.1035_1036delinsTT (p.Ala345_Leu346=) rs1571022654
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.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.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.1098C>A (p.Arg366=)
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.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.1150G>A (p.Ala384Thr) rs2101522239
NM_000748.3(CHRNB2):c.1152C>A (p.Ala384=) rs746495548
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.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.1190A>C (p.Gln397Pro)
NM_000748.3(CHRNB2):c.1190A>G (p.Gln397Arg) rs200441832
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.1210G>C (p.Gly404Arg)
NM_000748.3(CHRNB2):c.1215T>A (p.Ala405=)
NM_000748.3(CHRNB2):c.1215T>C (p.Ala405=)
NM_000748.3(CHRNB2):c.121C>T (p.Arg41Cys) rs1174834370
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.1240G>A (p.Gly414Arg) rs1024048381
NM_000748.3(CHRNB2):c.1240G>C (p.Gly414Arg) rs1024048381
NM_000748.3(CHRNB2):c.1242G>C (p.Gly414=) rs1553204404
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.1257G>A (p.Pro419=) rs199743038
NM_000748.3(CHRNB2):c.1270C>T (p.Leu424Phe) rs2101522745
NM_000748.3(CHRNB2):c.1275G>C (p.Arg425=)
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.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.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+10G>T rs903039235
NM_000748.3(CHRNB2):c.1338_1339insTGGA (p.Val447fs)
NM_000748.3(CHRNB2):c.1339-15G>A rs756629260
NM_000748.3(CHRNB2):c.1341G>T (p.Val447=)
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.1362C>T (p.Val454=)
NM_000748.3(CHRNB2):c.1364C>T (p.Ala455Val)
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.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.138C>T (p.Ile46=) rs775128215
NM_000748.3(CHRNB2):c.1395C>T (p.Ile465=)
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.1434C>A (p.Phe478Leu)
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.1458C>T (p.Tyr486=)
NM_000748.3(CHRNB2):c.146C>T (p.Ala49Val)
NM_000748.3(CHRNB2):c.1470C>T (p.Thr490=)
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.177G>A (p.Gln59=)
NM_000748.3(CHRNB2):c.184G>A (p.Val62Met)
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.211-3C>A
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.223C>G (p.Gln75Glu) rs2149366248
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.255+7G>C 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.256-1G>A
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.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.344C>T (p.Pro115Leu) rs2101519039
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.365+2T>C rs1440177267
NM_000748.3(CHRNB2):c.366T>C (p.Asn122=) rs748227150
NM_000748.3(CHRNB2):c.393C>T (p.Phe131=)
NM_000748.3(CHRNB2):c.401A>G (p.Asn134Ser)
NM_000748.3(CHRNB2):c.402T>A (p.Asn134Lys) rs760458701
NM_000748.3(CHRNB2):c.402T>C (p.Asn134=) rs760458701
NM_000748.3(CHRNB2):c.404C>T (p.Ala135Val) rs1060502835
NM_000748.3(CHRNB2):c.405C>G (p.Ala135=) rs777250519
NM_000748.3(CHRNB2):c.410T>G (p.Val137Gly)
NM_000748.3(CHRNB2):c.411C>T (p.Val137=)
NM_000748.3(CHRNB2):c.416A>G (p.Tyr139Cys)
NM_000748.3(CHRNB2):c.423C>T (p.Gly141=) rs1696159240
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.448A>G (p.Ile150Val) rs1557851437
NM_000748.3(CHRNB2):c.456G>A (p.Lys152=) rs2101520375
NM_000748.3(CHRNB2):c.462A>G (p.Ala154=)
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.498G>A (p.Gln166=) rs2101520429
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.531C>A (p.Thr177=) rs2101520486
NM_000748.3(CHRNB2):c.534C>T (p.Tyr178=) rs1211673895
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.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.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.57G>A (p.Leu19=) rs2149365770
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.60C>T (p.Cys20=)
NM_000748.3(CHRNB2):c.620C>G (p.Ala207Gly) rs201622476
NM_000748.3(CHRNB2):c.622C>T (p.Leu208=) rs906389720
NM_000748.3(CHRNB2):c.626C>T (p.Pro209Leu)
NM_000748.3(CHRNB2):c.63A>G (p.Ser21=)
NM_000748.3(CHRNB2):c.64+13C>T
NM_000748.3(CHRNB2):c.64+17C>T
NM_000748.3(CHRNB2):c.64+3A>G
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.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.65G>A (p.Gly22Glu)
NM_000748.3(CHRNB2):c.660G>A (p.Thr220=)
NM_000748.3(CHRNB2):c.663C>T (p.Tyr221=)
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.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.687C>G (p.Ile229Met) rs1244782091
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.701C>T (p.Pro234Leu)
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.732_733del (p.Val246fs) rs2101520989
NM_000748.3(CHRNB2):c.754G>A (p.Ala252Thr) rs2101521069
NM_000748.3(CHRNB2):c.756C>T (p.Ala252=)
NM_000748.3(CHRNB2):c.785G>A (p.Cys262Tyr)
NM_000748.3(CHRNB2):c.78G>A (p.Thr26=) rs143402032
NM_000748.3(CHRNB2):c.78G>T (p.Thr26=)
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.801G>A (p.Thr267=) rs200331379
NM_000748.3(CHRNB2):c.801G>C (p.Thr267=)
NM_000748.3(CHRNB2):c.806_807delinsAA (p.Cys269Ter)
NM_000748.3(CHRNB2):c.811_812del (p.Val272fs)
NM_000748.3(CHRNB2):c.819G>C (p.Leu273=) rs745793301
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.845T>A (p.Leu282His) rs1696167453
NM_000748.3(CHRNB2):c.846C>T (p.Leu282=) rs1322383536
NM_000748.3(CHRNB2):c.847A>T (p.Ile283Phe) rs1388744144
NM_000748.3(CHRNB2):c.847dup (p.Ile283fs) rs2101521229
NM_000748.3(CHRNB2):c.859G>A (p.Val287Met) rs74315291
NM_000748.3(CHRNB2):c.859G>C (p.Val287Leu) rs74315291
NM_000748.3(CHRNB2):c.859G>T (p.Val287Leu)
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.885G>A (p.Pro295=)
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.918G>A (p.Val306=)
NM_000748.3(CHRNB2):c.919C>A (p.Leu307Ile) rs200720061
NM_000748.3(CHRNB2):c.91C>A (p.Arg31=) rs145926853
NM_000748.3(CHRNB2):c.91C>T (p.Arg31Trp)
NM_000748.3(CHRNB2):c.923T>C (p.Val308Ala) rs281865070
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.951C>T (p.Cys317=)
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)
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.