ClinVar Miner

List of variants in gene CHRNE studied for congenital myasthenic syndrome

Included ClinVar conditions (53):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 315
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000080.4(CHRNE):c.*144T>C rs12936083 0.46557
NM_000080.4(CHRNE):c.*437G>C rs3514 0.19221
NM_000080.4(CHRNE):c.1293C>T (p.Ala431=) rs33978919 0.18524
NM_000080.4(CHRNE):c.*61C>T rs12940036 0.17963
NM_000080.4(CHRNE):c.1305A>G (p.Arg435=) rs55681486 0.07419
NM_000080.4(CHRNE):c.*65C>T rs56067981 0.07414
NM_000080.4(CHRNE):c.*37G>A rs2229199 0.03523
NM_000080.4(CHRNE):c.*43T>C rs2229200 0.03101
NM_000080.4(CHRNE):c.*610C>T rs144554248 0.01282
NM_000080.4(CHRNE):c.1017C>G (p.Ser339=) rs114454383 0.00816
NM_000080.4(CHRNE):c.*6A>G rs55806270 0.00487
NM_000080.4(CHRNE):c.1220-5G>A rs188564977 0.00287
NM_000080.4(CHRNE):c.1425C>T (p.Leu475=) rs151193377 0.00197
NM_000080.4(CHRNE):c.*267C>T rs551251860 0.00185
NM_000080.4(CHRNE):c.1416C>T (p.Leu472=) rs145456588 0.00133
NM_000080.4(CHRNE):c.1245C>T (p.Ala415=) rs202051373 0.00043
NM_000080.4(CHRNE):c.*125C>T rs538687901 0.00036
NM_000080.4(CHRNE):c.1321G>A (p.Gly441Ser) rs375221757 0.00030
NM_000080.4(CHRNE):c.*315T>G rs779969688 0.00029
NM_000080.4(CHRNE):c.*572C>G rs564549054 0.00029
NM_000080.4(CHRNE):c.1458C>T (p.Pro486=) rs768977197 0.00017
NM_000080.4(CHRNE):c.1119G>T (p.Ser373=) rs372862723 0.00016
NM_000080.4(CHRNE):c.1327-3C>T rs749489742 0.00014
NM_000080.4(CHRNE):c.1413C>T (p.Ser471=) rs372792059 0.00009
NM_000080.4(CHRNE):c.1462G>A (p.Ala488Thr) rs780592951 0.00009
NM_000080.4(CHRNE):c.1278C>T (p.Ala426=) rs751593666 0.00007
NM_000080.4(CHRNE):c.1446G>A (p.Val482=) rs376713095 0.00007
NM_000080.4(CHRNE):c.*206G>A rs548395785 0.00006
NM_000080.4(CHRNE):c.1115C>T (p.Ala372Val) rs912512352 0.00006
NM_000080.4(CHRNE):c.1262G>A (p.Arg421His) rs144952259 0.00006
NM_000080.4(CHRNE):c.1345C>T (p.Arg449Cys) rs149083639 0.00006
NM_000080.4(CHRNE):c.1419C>A (p.Ile473=) rs750097789 0.00006
NM_000080.4(CHRNE):c.1032+17C>T rs372131102 0.00004
NM_000080.4(CHRNE):c.1220-6C>T rs56251503 0.00004
NM_000080.4(CHRNE):c.1267T>A (p.Cys423Ser) rs372515997 0.00004
NM_000080.4(CHRNE):c.1332G>C (p.Val444=) rs376975376 0.00004
NM_000080.4(CHRNE):c.1335C>T (p.Ser445=) rs753202734 0.00004
NM_000080.4(CHRNE):c.1374C>T (p.Cys458=) rs201030784 0.00004
NM_000080.4(CHRNE):c.1390G>A (p.Val464Met) rs771016534 0.00004
NM_000080.4(CHRNE):c.1407C>T (p.Gly469=) rs377178938 0.00004
NM_000080.4(CHRNE):c.*597G>A rs886053118 0.00003
NM_000080.4(CHRNE):c.1007_1025del (p.His336fs) rs1268475945 0.00003
NM_000080.4(CHRNE):c.1289T>G (p.Val430Gly) rs200343520 0.00003
NM_000080.4(CHRNE):c.971del (p.Ile324fs) rs879255562 0.00003
NM_000080.4(CHRNE):c.989A>G (p.Gln330Arg) rs747017964 0.00003
NM_000080.4(CHRNE):c.991C>A (p.Arg331=) rs121909515 0.00003
NM_000080.4(CHRNE):c.1029C>T (p.Arg343=) rs1172630871 0.00002
NM_000080.4(CHRNE):c.1301C>T (p.Thr434Met) rs1049573372 0.00002
NM_000080.4(CHRNE):c.1327-10C>T rs779066933 0.00002
NM_000080.4(CHRNE):c.1434C>A (p.Tyr478Ter) rs763943642 0.00002
NM_000080.4(CHRNE):c.1455C>T (p.Leu485=) rs369916656 0.00002
NM_000080.4(CHRNE):c.1466C>T (p.Pro489Leu) rs575920043 0.00002
NM_000080.4(CHRNE):c.1467G>A (p.Pro489=) rs950225592 0.00002
NM_000080.4(CHRNE):c.*366G>A rs551684568 0.00001
NM_000080.4(CHRNE):c.*38G>A rs755764652 0.00001
NM_000080.4(CHRNE):c.*556C>T rs886053120 0.00001
NM_000080.4(CHRNE):c.*5C>T rs747566295 0.00001
NM_000080.4(CHRNE):c.1002C>T (p.Thr334=) rs747880376 0.00001
NM_000080.4(CHRNE):c.1003A>G (p.Thr335Ala) rs1216965153 0.00001
NM_000080.4(CHRNE):c.1005C>T (p.Thr335=) rs1247241612 0.00001
NM_000080.4(CHRNE):c.1008C>T (p.His336=) rs768479748 0.00001
NM_000080.4(CHRNE):c.1024C>T (p.Leu342=) rs778130828 0.00001
NM_000080.4(CHRNE):c.1027C>T (p.Arg343Cys) rs1422523453 0.00001
NM_000080.4(CHRNE):c.1030C>G (p.His344Asp) rs886053125 0.00001
NM_000080.4(CHRNE):c.1032+8C>T rs755463469 0.00001
NM_000080.4(CHRNE):c.1032+9G>A rs752020505 0.00001
NM_000080.4(CHRNE):c.1122G>A (p.Ser374=) rs1047142793 0.00001
NM_000080.4(CHRNE):c.1128C>T (p.Gly376=) rs1449525013 0.00001
NM_000080.4(CHRNE):c.1220-1G>A rs373710822 0.00001
NM_000080.4(CHRNE):c.1220-4C>T rs201553105 0.00001
NM_000080.4(CHRNE):c.1228T>C (p.Cys410Arg) rs753739289 0.00001
NM_000080.4(CHRNE):c.1254C>T (p.Pro418=) rs1420851295 0.00001
NM_000080.4(CHRNE):c.1255G>A (p.Glu419Lys) rs754975887 0.00001
NM_000080.4(CHRNE):c.1261C>T (p.Arg421Cys) rs369709668 0.00001
NM_000080.4(CHRNE):c.1279G>A (p.Val427Met) rs780122731 0.00001
NM_000080.4(CHRNE):c.1284C>T (p.Asn428=) rs750634265 0.00001
NM_000080.4(CHRNE):c.1287C>T (p.Phe429=) rs1349711476 0.00001
NM_000080.4(CHRNE):c.1288G>A (p.Val430Met) rs1348466102 0.00001
NM_000080.4(CHRNE):c.1290G>A (p.Val430=) rs1416247967 0.00001
NM_000080.4(CHRNE):c.1299C>T (p.Ser433=) rs773970037 0.00001
NM_000080.4(CHRNE):c.1303A>C (p.Arg435=) rs1486674648 0.00001
NM_000080.4(CHRNE):c.1320C>T (p.Thr440=) rs1292101958 0.00001
NM_000080.4(CHRNE):c.1323C>T (p.Gly441=) rs758517310 0.00001
NM_000080.4(CHRNE):c.1326+9G>A rs1171676082 0.00001
NM_000080.4(CHRNE):c.1327-20C>T rs1312286883 0.00001
NM_000080.4(CHRNE):c.1359C>T (p.Ala453=) rs1412855797 0.00001
NM_000080.4(CHRNE):c.1368C>T (p.Asn456=) rs1374818797 0.00001
NM_000080.4(CHRNE):c.1370T>C (p.Ile457Thr) rs1361578187 0.00001
NM_000080.4(CHRNE):c.1377C>T (p.Phe459=) rs1486567580 0.00001
NM_000080.4(CHRNE):c.1395C>T (p.Leu465=) rs1207444316 0.00001
NM_000080.4(CHRNE):c.1424T>A (p.Leu475His) rs764935677 0.00001
NM_000080.4(CHRNE):c.1431C>T (p.Ala477=) rs545473686 0.00001
NM_000080.4(CHRNE):c.1453C>T (p.Leu485Phe) rs1085307690 0.00001
NM_000080.4(CHRNE):c.1461C>T (p.Tyr487=) rs373293781 0.00001
NM_000080.4(CHRNE):c.1471A>G (p.Ile491Val) rs753512613 0.00001
NM_000080.4(CHRNE):c.972C>T (p.Ile324=) rs1405865454 0.00001
NM_000080.4(CHRNE):c.981C>T (p.Asn327=) rs958190024 0.00001
NC_000017.10:g.(?_4802021)_(4802196_?)del
NM_000080.4(CHRNE):c.*24C>T rs371649855
NM_000080.4(CHRNE):c.*329T>A rs1597611527
NM_000080.4(CHRNE):c.*383G>A rs886053121
NM_000080.4(CHRNE):c.*388C>T rs1337870258
NM_000080.4(CHRNE):c.*590C>T rs886053119
NM_000080.4(CHRNE):c.*622C>T rs886053117
NM_000080.4(CHRNE):c.1000A>G (p.Thr334Ala)
NM_000080.4(CHRNE):c.1002_1008dup (p.Ala337fs)
NM_000080.4(CHRNE):c.1003A>C (p.Thr335Pro)
NM_000080.4(CHRNE):c.1004C>T (p.Thr335Ile)
NM_000080.4(CHRNE):c.1006C>T (p.His336Tyr)
NM_000080.4(CHRNE):c.1008C>G (p.His336Gln) rs768479748
NM_000080.4(CHRNE):c.1009G>A (p.Ala337Thr)
NM_000080.4(CHRNE):c.1011C>T (p.Ala337=) rs1555546423
NM_000080.4(CHRNE):c.1012A>G (p.Met338Val) rs200035803
NM_000080.4(CHRNE):c.1012del (p.Met338fs) rs2151095155
NM_000080.4(CHRNE):c.1016C>T (p.Ser339Phe)
NM_000080.4(CHRNE):c.1016_1032+2dup
NM_000080.4(CHRNE):c.1017C>T (p.Ser339=) rs114454383
NM_000080.4(CHRNE):c.1018C>T (p.Pro340Ser) rs1019584942
NM_000080.4(CHRNE):c.1019C>G (p.Pro340Arg) rs139922367
NM_000080.4(CHRNE):c.1019C>T (p.Pro340Leu) rs139922367
NM_000080.4(CHRNE):c.1020G>A (p.Pro340=)
NM_000080.4(CHRNE):c.1021C>T (p.Arg341Trp) rs1597615227
NM_000080.4(CHRNE):c.1022G>A (p.Arg341Gln)
NM_000080.4(CHRNE):c.1023G>T (p.Arg341=)
NM_000080.4(CHRNE):c.1025T>C (p.Leu342Pro) rs1230039635
NM_000080.4(CHRNE):c.1026G>T (p.Leu342=) rs2151095114
NM_000080.4(CHRNE):c.1027C>A (p.Arg343Ser)
NM_000080.4(CHRNE):c.1028G>T (p.Arg343Leu)
NM_000080.4(CHRNE):c.1030del (p.His344fs) rs879253723
NM_000080.4(CHRNE):c.1031A>G (p.His344Arg)
NM_000080.4(CHRNE):c.1032+10G>A rs2151095067
NM_000080.4(CHRNE):c.1032+10G>C
NM_000080.4(CHRNE):c.1032+11A>G
NM_000080.4(CHRNE):c.1032+12G>A
NM_000080.4(CHRNE):c.1032+12_1032+13insC
NM_000080.4(CHRNE):c.1032+13G>C
NM_000080.4(CHRNE):c.1032+14G>A
NM_000080.4(CHRNE):c.1032+14G>C
NM_000080.4(CHRNE):c.1032+18G>A
NM_000080.4(CHRNE):c.1032+1G>A rs1458613529
NM_000080.4(CHRNE):c.1032+1G>C
NM_000080.4(CHRNE):c.1032+20T>G
NM_000080.4(CHRNE):c.1032+3A>C
NM_000080.4(CHRNE):c.1032+7G>A
NM_000080.4(CHRNE):c.1032+9G>C
NM_000080.4(CHRNE):c.1032+9G>T rs752020505
NM_000080.4(CHRNE):c.1032C>A (p.His344Gln) rs144047383
NM_000080.4(CHRNE):c.1032C>G (p.His344Gln) rs144047383
NM_000080.4(CHRNE):c.1032C>T (p.His344=)
NM_000080.4(CHRNE):c.1116G>A (p.Ala372=) rs1226276974
NM_000080.4(CHRNE):c.1116_1128del (p.Ser373fs)
NM_000080.4(CHRNE):c.1117T>G (p.Ser373Ala) rs1555546304
NM_000080.4(CHRNE):c.1119G>A (p.Ser373=) rs372862723
NM_000080.4(CHRNE):c.1119G>C (p.Ser373=) rs372862723
NM_000080.4(CHRNE):c.1121C>A (p.Ser374Ter) rs768869197
NM_000080.4(CHRNE):c.1122G>C (p.Ser374=)
NM_000080.4(CHRNE):c.1129T>C (p.Leu377=)
NM_000080.4(CHRNE):c.1134G>A (p.Leu378=)
NM_000080.4(CHRNE):c.1220-10del
NM_000080.4(CHRNE):c.1220-14G>A
NM_000080.4(CHRNE):c.1220-14_1220-3dup
NM_000080.4(CHRNE):c.1220-15T>C
NM_000080.4(CHRNE):c.1220-16G>A
NM_000080.4(CHRNE):c.1220-18C>T
NM_000080.4(CHRNE):c.1220-19C>A
NM_000080.4(CHRNE):c.1220-1G>C rs373710822
NM_000080.4(CHRNE):c.1220-20C>A
NM_000080.4(CHRNE):c.1220-2A>C
NM_000080.4(CHRNE):c.1220-2A>G rs1309292778
NM_000080.4(CHRNE):c.1220-3C>T
NM_000080.4(CHRNE):c.1220-4C>A
NM_000080.4(CHRNE):c.1220-4C>G rs201553105
NM_000080.4(CHRNE):c.1220-5G>T
NM_000080.4(CHRNE):c.1220-6C>G
NM_000080.4(CHRNE):c.1220-6_1227del rs1567635954
NM_000080.4(CHRNE):c.1220-7C>G
NM_000080.4(CHRNE):c.1220-8_1227dup rs2151094080
NM_000080.4(CHRNE):c.1220-9C>G rs748607118
NM_000080.4(CHRNE):c.1222G>A (p.Ala408Thr) rs1202290550
NM_000080.4(CHRNE):c.1223C>G (p.Ala408Gly) rs778624148
NM_000080.4(CHRNE):c.1231C>T (p.Gln411Ter) rs1969839736
NM_000080.4(CHRNE):c.1233G>A (p.Gln411=) rs2151094069
NM_000080.4(CHRNE):c.1236C>T (p.Ser412=)
NM_000080.4(CHRNE):c.1238dup (p.Ala415fs)
NM_000080.4(CHRNE):c.1239G>C (p.Leu413=) rs1969839608
NM_000080.4(CHRNE):c.1239G>T (p.Leu413=)
NM_000080.4(CHRNE):c.1242C>A (p.Gly414=) rs370770111
NM_000080.4(CHRNE):c.1242C>G (p.Gly414=)
NM_000080.4(CHRNE):c.1242C>T (p.Gly414=) rs370770111
NM_000080.4(CHRNE):c.1248C>T (p.Ala416=) rs966410323
NM_000080.4(CHRNE):c.1248_1266dup (p.Cys423fs)
NM_000080.4(CHRNE):c.1250_1268dup (p.Val424fs) rs781774131
NM_000080.4(CHRNE):c.1251C>A (p.Ala417=)
NM_000080.4(CHRNE):c.1251C>T (p.Ala417=) rs2151094028
NM_000080.4(CHRNE):c.1251_1266dup (p.Cys423fs) rs748694848
NM_000080.4(CHRNE):c.1252_1254dup (p.Pro418_Glu419insPro)
NM_000080.4(CHRNE):c.1252_1267dup (p.Cys423fs) rs1597613479
NM_000080.4(CHRNE):c.1254C>G (p.Pro418=)
NM_000080.4(CHRNE):c.1254dup (p.Glu419fs) rs769945146
NM_000080.4(CHRNE):c.1255G>T (p.Glu419Ter) rs754975887
NM_000080.4(CHRNE):c.1257G>A (p.Glu419=)
NM_000080.4(CHRNE):c.1258del (p.Val420fs)
NM_000080.4(CHRNE):c.1261C>G (p.Arg421Gly)
NM_000080.4(CHRNE):c.1266C>T (p.Cys422=) rs994146259
NM_000080.4(CHRNE):c.1271_1290del (p.Val424fs) rs2151093952
NM_000080.4(CHRNE):c.1281G>A (p.Val427=) rs2151093968
NM_000080.4(CHRNE):c.1282A>T (p.Asn428Tyr)
NM_000080.4(CHRNE):c.1291G>C (p.Ala431Pro) rs121909517
NM_000080.4(CHRNE):c.1291G>T (p.Ala431Ser) rs121909517
NM_000080.4(CHRNE):c.1297_1314dup (p.Ser433_Glu438dup) rs1969834618
NM_000080.4(CHRNE):c.1302G>A (p.Thr434=)
NM_000080.4(CHRNE):c.1306_1307del (p.Asp436fs) rs1194524772
NM_000080.4(CHRNE):c.1308T>C (p.Asp436=)
NM_000080.4(CHRNE):c.1309C>T (p.Gln437Ter)
NM_000080.4(CHRNE):c.1310A>T (p.Gln437Leu)
NM_000080.4(CHRNE):c.1311G>A (p.Gln437=)
NM_000080.4(CHRNE):c.1314G>C (p.Glu438Asp)
NM_000080.4(CHRNE):c.1317C>T (p.Ala439=)
NM_000080.4(CHRNE):c.1318A>G (p.Thr440Ala)
NM_000080.4(CHRNE):c.1319_1326+15del rs1208462125
NM_000080.4(CHRNE):c.1320C>A (p.Thr440=) rs1292101958
NM_000080.4(CHRNE):c.1323dup (p.Glu442fs) rs1597613302
NM_000080.4(CHRNE):c.1326+13_1326+32del rs780277856
NM_000080.4(CHRNE):c.1326+14C>T
NM_000080.4(CHRNE):c.1326+18G>A
NM_000080.4(CHRNE):c.1326+1G>A rs1430654625
NM_000080.4(CHRNE):c.1326+20C>A
NM_000080.4(CHRNE):c.1326+2T>C rs1597613279
NM_000080.4(CHRNE):c.1326+6A>C rs886053122
NM_000080.4(CHRNE):c.1326+7C>T
NM_000080.4(CHRNE):c.1327-14C>G
NM_000080.4(CHRNE):c.1327-14C>T
NM_000080.4(CHRNE):c.1327-17_1327-16del rs774197166
NM_000080.4(CHRNE):c.1327-18G>C
NM_000080.4(CHRNE):c.1327-21_1327-18del
NM_000080.4(CHRNE):c.1327-4C>G rs2151093603
NM_000080.4(CHRNE):c.1327-5C>A rs2151093607
NM_000080.4(CHRNE):c.1327-5C>T rs2151093607
NM_000080.4(CHRNE):c.1327-6C>T
NM_000080.4(CHRNE):c.1327-6dup rs770570480
NM_000080.4(CHRNE):c.1329A>G (p.Glu443=)
NM_000080.4(CHRNE):c.1332del (p.Ser445fs)
NM_000080.4(CHRNE):c.1335C>A (p.Ser445=) rs753202734
NM_000080.4(CHRNE):c.1335C>G (p.Ser445=) rs753202734
NM_000080.4(CHRNE):c.1338C>G (p.Asp446Glu)
NM_000080.4(CHRNE):c.1338C>T (p.Asp446=)
NM_000080.4(CHRNE):c.1341G>A (p.Trp447Ter) rs918839874
NM_000080.4(CHRNE):c.1343T>C (p.Val448Ala) rs1969824493
NM_000080.4(CHRNE):c.1344G>A (p.Val448=) rs143098859
NM_000080.4(CHRNE):c.1344G>C (p.Val448=) rs143098859
NM_000080.4(CHRNE):c.1345C>A (p.Arg449Ser) rs149083639
NM_000080.4(CHRNE):c.1350G>A (p.Met450Ile)
NM_000080.4(CHRNE):c.1353dup (p.Asn452fs) rs773526895
NM_000080.4(CHRNE):c.1358C>T (p.Ala453Val)
NM_000080.4(CHRNE):c.1362T>C (p.Leu454=)
NM_000080.4(CHRNE):c.1363G>A (p.Asp455Asn)
NM_000080.4(CHRNE):c.1364ACA[1] (p.Asn456del) rs748289906
NM_000080.4(CHRNE):c.1365C>T (p.Asp455=) rs1969823137
NM_000080.4(CHRNE):c.1371del (p.Cys458fs) rs1597612665
NM_000080.4(CHRNE):c.1376T>G (p.Phe459Cys)
NM_000080.4(CHRNE):c.1379G>A (p.Trp460Ter)
NM_000080.4(CHRNE):c.1380G>A (p.Trp460Ter) rs1555546096
NM_000080.4(CHRNE):c.1381_1390del (p.Ala461fs)
NM_000080.4(CHRNE):c.1382C>T (p.Ala461Val)
NM_000080.4(CHRNE):c.1383C>A (p.Ala461=)
NM_000080.4(CHRNE):c.1383C>G (p.Ala461=) rs570378547
NM_000080.4(CHRNE):c.1383C>T (p.Ala461=) rs570378547
NM_000080.4(CHRNE):c.1383_1393del (p.Ala462fs)
NM_000080.4(CHRNE):c.1387C>T (p.Leu463=)
NM_000080.4(CHRNE):c.1388T>G (p.Leu463Arg)
NM_000080.4(CHRNE):c.1401C>T (p.Ser467=)
NM_000080.4(CHRNE):c.1402G>A (p.Val468Met) rs139171143
NM_000080.4(CHRNE):c.1402G>C (p.Val468Leu) rs139171143
NM_000080.4(CHRNE):c.1402G>T (p.Val468Leu)
NM_000080.4(CHRNE):c.1404G>C (p.Val468=)
NM_000080.4(CHRNE):c.1406G>T (p.Gly469Val) rs1346830083
NM_000080.4(CHRNE):c.1410C>T (p.Ser470=) rs2151093451
NM_000080.4(CHRNE):c.1419C>T (p.Ile473=)
NM_000080.4(CHRNE):c.1428G>T (p.Gly476=)
NM_000080.4(CHRNE):c.1429del (p.Ala477fs) rs1396286715
NM_000080.4(CHRNE):c.1434C>T (p.Tyr478=) rs763943642
NM_000080.4(CHRNE):c.1439A>G (p.Asn480Ser) rs760738362
NM_000080.4(CHRNE):c.1441C>G (p.Arg481Gly)
NM_000080.4(CHRNE):c.1441C>T (p.Arg481Ter) rs775550642
NM_000080.4(CHRNE):c.1443A>C (p.Arg481=) rs2151093399
NM_000080.4(CHRNE):c.1450G>C (p.Asp484His)
NM_000080.4(CHRNE):c.1457C>T (p.Pro486Leu) rs1969817843
NM_000080.4(CHRNE):c.1461C>A (p.Tyr487Ter)
NM_000080.4(CHRNE):c.1463C>T (p.Ala488Val)
NM_000080.4(CHRNE):c.1467G>T (p.Pro489=) rs950225592
NM_000080.4(CHRNE):c.1473C>T (p.Ile491=)
NM_000080.4(CHRNE):c.1479T>G (p.Pro493=)
NM_000080.4(CHRNE):c.1480T>C (p.Ter494Gln) rs972956416
NM_000080.4(CHRNE):c.1480_*48delinsC (p.Ter494LeuextTer?) rs1555546038
NM_000080.4(CHRNE):c.1481_*48del (p.Ter494LeuextTer?)
NM_000080.4(CHRNE):c.966C>A (p.Cys322Ter) rs56377005
NM_000080.4(CHRNE):c.966C>T (p.Cys322=) rs56377005
NM_000080.4(CHRNE):c.969C>A (p.Val323=) rs532669011
NM_000080.4(CHRNE):c.969C>T (p.Val323=) rs532669011
NM_000080.4(CHRNE):c.975G>C (p.Val325=) rs1969881791
NM_000080.4(CHRNE):c.978C>T (p.Leu326=)
NM_000080.4(CHRNE):c.980A>G (p.Asn327Ser)
NM_000080.4(CHRNE):c.984G>A (p.Val328=)
NM_000080.4(CHRNE):c.984G>T (p.Val328=) rs1969880796
NM_000080.4(CHRNE):c.984_986delinsT (p.Ser329fs)
NM_000080.4(CHRNE):c.985T>C (p.Ser329Pro) rs2151095207
NM_000080.4(CHRNE):c.985_986del (p.Ser329fs) rs1969880683
NM_000080.4(CHRNE):c.988C>T (p.Gln330Ter)
NM_000080.4(CHRNE):c.991C>T (p.Arg331Trp) rs121909515
NM_000080.4(CHRNE):c.992G>A (p.Arg331Gln) rs760022829
NM_000080.4(CHRNE):c.994_1023dup (p.Arg341_Leu342insThrProThrThrHisAlaMetSerProArg)
NM_000080.4(CHRNE):c.996G>A (p.Thr332=) rs772819662
NM_000080.4(CHRNE):c.996G>C (p.Thr332=)
NM_000080.4(CHRNE):c.996G>T (p.Thr332=) rs772819662
NM_000080.4(CHRNE):c.999C>T (p.Pro333=)

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