ClinVar Miner

List of variants in gene CHRNB2 studied for not provided

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Gene type:
ClinVar version:
Total variants: 176
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HGVS dbSNP gnomAD frequency
NM_000748.3(CHRNB2):c.64+133A>G rs12062226 0.10842
NM_000748.3(CHRNB2):c.-214A>G rs12062049 0.10840
NM_000748.3(CHRNB2):c.210+9A>G rs3926124 0.10829
NM_000748.3(CHRNB2):c.*113C>G rs2072659 0.08453
NM_000748.3(CHRNB2):c.1338+14G>T rs4845378 0.07732
NM_000748.3(CHRNB2):c.366-159A>G rs79823873 0.05183
NM_000748.3(CHRNB2):c.1338+245A>G rs74119105 0.04185
NC_000001.11:g.154567539C>G rs71651696 0.03303
NC_000001.11:g.154567591C>A rs76924919 0.02425
NM_000748.3(CHRNB2):c.256-41C>T rs74119104 0.02398
NM_000748.3(CHRNB2):c.1339-23C>A rs11803785 0.01887
NC_000001.11:g.154567749G>A rs2072658 0.01801
NM_000748.3(CHRNB2):c.65-99A>T rs8192484 0.01602
NM_000748.3(CHRNB2):c.65-221G>A rs138398618 0.01311
NM_000748.3(CHRNB2):c.1339-183C>T rs78672525 0.00780
NM_000748.3(CHRNB2):c.*231G>A rs115971480 0.00759
NM_000748.3(CHRNB2):c.1191G>C (p.Gln397His) rs55685423 0.00688
NM_000748.3(CHRNB2):c.64+244C>T rs116645052 0.00678
NM_000748.3(CHRNB2):c.64+185G>A rs374065637 0.00503
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.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.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.1236C>T (p.Gly412=) rs767533378 0.00005
NM_000748.3(CHRNB2):c.1273C>T (p.Arg425Trp) rs77710036 0.00005
NM_000748.3(CHRNB2):c.297T>C (p.Phe99=) rs777276160 0.00005
NM_000748.3(CHRNB2):c.1117G>A (p.Ala373Thr) rs778714852 0.00004
NM_000748.3(CHRNB2):c.122G>A (p.Arg41His) rs199999862 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.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.316C>T (p.Arg106Trp) rs372273025 0.00003
NM_000748.3(CHRNB2):c.460G>A (p.Ala154Thr) rs769929506 0.00003
NM_000748.3(CHRNB2):c.1035G>T (p.Ala345=) rs778458803 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.1082T>C (p.Leu361Pro) rs1226774233 0.00001
NM_000748.3(CHRNB2):c.1153G>A (p.Asp385Asn) rs932622161 0.00001
NM_000748.3(CHRNB2):c.1199C>A (p.Ala400Asp) rs1020953003 0.00001
NM_000748.3(CHRNB2):c.1204G>A (p.Ala402Thr) rs199658508 0.00001
NM_000748.3(CHRNB2):c.1257G>T (p.Pro419=) rs199743038 0.00001
NM_000748.3(CHRNB2):c.1291G>C (p.Val431Leu) rs1064796396 0.00001
NM_000748.3(CHRNB2):c.1308C>T (p.Asp436=) rs1057524421 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.140G>A (p.Arg47His) rs769249583 0.00001
NM_000748.3(CHRNB2):c.1423A>C (p.Ile475Leu) rs202135710 0.00001
NM_000748.3(CHRNB2):c.1463C>T (p.Thr488Ile) rs796052328 0.00001
NM_000748.3(CHRNB2):c.212A>G (p.His71Arg) rs796052325 0.00001
NM_000748.3(CHRNB2):c.222G>C (p.Glu74Asp) rs368583539 0.00001
NM_000748.3(CHRNB2):c.277A>T (p.Thr93Ser) rs752355994 0.00001
NM_000748.3(CHRNB2):c.366-3C>T rs1382302930 0.00001
NM_000748.3(CHRNB2):c.515A>G (p.Lys172Arg) rs1330894666 0.00001
NM_000748.3(CHRNB2):c.547A>T (p.Ile183Phe) rs794727707 0.00001
NM_000748.3(CHRNB2):c.549C>G (p.Ile183Met) rs776372933 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.634C>T (p.Arg212Cys) rs572595325 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.75T>C (p.Gly25=) rs764498388 0.00001
NM_000748.3(CHRNB2):c.910A>G (p.Thr304Ala) rs780962241 0.00001
NM_000748.3(CHRNB2):c.938T>C (p.Val313Ala) rs367833033 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.1010T>G (p.Val337Gly)
NM_000748.3(CHRNB2):c.1046T>A (p.Met349Lys) rs141735618
NM_000748.3(CHRNB2):c.1109G>A (p.Arg370His) rs200483865
NM_000748.3(CHRNB2):c.1117G>T (p.Ala373Ser) rs778714852
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.1168T>A (p.Phe390Ile)
NM_000748.3(CHRNB2):c.1170C>G (p.Phe390Leu)
NM_000748.3(CHRNB2):c.1181C>T (p.Ala394Val)
NM_000748.3(CHRNB2):c.1190_1203delinsTCA (p.Gln397fs) rs2101522423
NM_000748.3(CHRNB2):c.1201G>T (p.Gly401Trp) rs902984484
NM_000748.3(CHRNB2):c.121C>T (p.Arg41Cys) rs1174834370
NM_000748.3(CHRNB2):c.1221T>G (p.Pro407=) rs1571023080
NM_000748.3(CHRNB2):c.1232C>A (p.Ala411Glu) rs763142542
NM_000748.3(CHRNB2):c.1234G>C (p.Gly412Arg)
NM_000748.3(CHRNB2):c.123C>A (p.Arg41=) rs201171352
NM_000748.3(CHRNB2):c.1288G>A (p.Gly430Ser)
NM_000748.3(CHRNB2):c.1295G>T (p.Arg432Leu) rs747248135
NM_000748.3(CHRNB2):c.1302C>G (p.Ile434Met)
NM_000748.3(CHRNB2):c.1319G>C (p.Ser440Thr)
NM_000748.3(CHRNB2):c.1323G>C (p.Glu441Asp) rs1696185130
NM_000748.3(CHRNB2):c.1324G>A (p.Asp442Asn)
NM_000748.3(CHRNB2):c.1338+25G>A rs56146528
NM_000748.3(CHRNB2):c.1363G>A (p.Ala455Thr)
NM_000748.3(CHRNB2):c.1368G>A (p.Met456Ile)
NM_000748.3(CHRNB2):c.1372A>G (p.Ile458Val) rs751272610
NM_000748.3(CHRNB2):c.1375G>T (p.Asp459Tyr) rs140505576
NM_000748.3(CHRNB2):c.1378C>G (p.Arg460Gly) 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.1417G>A (p.Gly473Ser) rs1696262468
NM_000748.3(CHRNB2):c.1423A>G (p.Ile475Val) rs202135710
NM_000748.3(CHRNB2):c.1434C>A (p.Phe478Leu)
NM_000748.3(CHRNB2):c.1459ACC[3] (p.Thr490del)
NM_000748.3(CHRNB2):c.1481C>T (p.Ser494Leu)
NM_000748.3(CHRNB2):c.1490C>G (p.Ser497Ter)
NM_000748.3(CHRNB2):c.1499G>A (p.Ser500Asn)
NM_000748.3(CHRNB2):c.154G>A (p.Gly52Ser) rs1553204015
NM_000748.3(CHRNB2):c.174A>G (p.Val58=)
NM_000748.3(CHRNB2):c.218G>A (p.Arg73Gln)
NM_000748.3(CHRNB2):c.224A>C (p.Gln75Pro)
NM_000748.3(CHRNB2):c.255+7G>A rs190374968
NM_000748.3(CHRNB2):c.255G>A (p.Gln85=) rs2149366262
NM_000748.3(CHRNB2):c.270T>A (p.Tyr90Ter)
NM_000748.3(CHRNB2):c.334A>G (p.Ile112Val)
NM_000748.3(CHRNB2):c.346G>C (p.Asp116His)
NM_000748.3(CHRNB2):c.360CAA[1] (p.Asn122del) rs796052329
NM_000748.3(CHRNB2):c.365+1G>C
NM_000748.3(CHRNB2):c.368C>T (p.Ala123Val)
NM_000748.3(CHRNB2):c.373G>T (p.Gly125Cys)
NM_000748.3(CHRNB2):c.381C>G (p.Tyr127Ter)
NM_000748.3(CHRNB2):c.394T>C (p.Tyr132His) rs1064793323
NM_000748.3(CHRNB2):c.404C>T (p.Ala135Val) rs1060502835
NM_000748.3(CHRNB2):c.41T>G (p.Phe14Cys)
NM_000748.3(CHRNB2):c.422G>A (p.Gly141Asp)
NM_000748.3(CHRNB2):c.485T>C (p.Phe162Ser) rs1696160348
NM_000748.3(CHRNB2):c.534C>A (p.Tyr178Ter)
NM_000748.3(CHRNB2):c.536A>G (p.Asp179Gly)
NM_000748.3(CHRNB2):c.620C>G (p.Ala207Gly) rs201622476
NM_000748.3(CHRNB2):c.632G>A (p.Arg211Gln) rs1286054801
NM_000748.3(CHRNB2):c.64+6G>C rs1553203865
NM_000748.3(CHRNB2):c.640G>C (p.Glu214Gln) rs780175030
NM_000748.3(CHRNB2):c.65-2del rs1696121118
NM_000748.3(CHRNB2):c.651C>A (p.Asp217Glu)
NM_000748.3(CHRNB2):c.658A>G (p.Thr220Ala)
NM_000748.3(CHRNB2):c.702G>A (p.Pro234=) rs200050755
NM_000748.3(CHRNB2):c.713C>T (p.Thr238Ile)
NM_000748.3(CHRNB2):c.732del (p.Cys245fs)
NM_000748.3(CHRNB2):c.740T>C (p.Leu247Pro)
NM_000748.3(CHRNB2):c.754G>A (p.Ala252Thr) rs2101521069
NM_000748.3(CHRNB2):c.777A>T (p.Pro259=) rs770431355
NM_000748.3(CHRNB2):c.78G>A (p.Thr26=) rs143402032
NM_000748.3(CHRNB2):c.791AGA[1] (p.Lys265del)
NM_000748.3(CHRNB2):c.805T>C (p.Cys269Arg)
NM_000748.3(CHRNB2):c.811_812del (p.Val272fs)
NM_000748.3(CHRNB2):c.824C>T (p.Ala275Val) rs201393088
NM_000748.3(CHRNB2):c.832G>T (p.Val278Phe)
NM_000748.3(CHRNB2):c.840del (p.Leu281fs)
NM_000748.3(CHRNB2):c.844C>T (p.Leu282Phe) rs1387572771
NM_000748.3(CHRNB2):c.847dup (p.Ile283fs) rs2101521229
NM_000748.3(CHRNB2):c.848T>C (p.Ile283Thr) rs796052327
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.859_867del (p.Val287_Pro289del) rs2101521275
NM_000748.3(CHRNB2):c.893G>T (p.Gly298Val) rs868235334
NM_000748.3(CHRNB2):c.921T>G (p.Leu307=) rs1484238390
NM_000748.3(CHRNB2):c.923T>C (p.Val308Ala) rs281865070
NM_000748.3(CHRNB2):c.961G>C (p.Val321Leu)
NM_000748.3(CHRNB2):c.96G>A (p.Leu32=) rs1571020266
NM_000748.3(CHRNB2):c.97G>A (p.Val33Met) rs1064795695
NM_000748.3(CHRNB2):c.97G>C (p.Val33Leu)

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