ClinVar Miner

List of variants in gene CHRNB1 reported as likely benign for congenital myasthenic syndrome

Included ClinVar conditions (53):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 122
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HGVS dbSNP gnomAD frequency
NM_000747.3(CHRNB1):c.1045-6C>G rs79209506 0.00404
NM_000747.3(CHRNB1):c.-13G>C rs199903026 0.00278
NM_000747.3(CHRNB1):c.243+14A>G rs376387886 0.00138
NM_000747.3(CHRNB1):c.1424T>C (p.Phe475Ser) rs148533702 0.00056
NM_000747.3(CHRNB1):c.1268C>A (p.Pro423Gln) rs138920330 0.00049
NM_000747.3(CHRNB1):c.132A>G (p.Pro44=) rs35872101 0.00043
NM_000747.3(CHRNB1):c.1359C>T (p.His453=) rs142053338 0.00041
NM_000747.3(CHRNB1):c.1126T>C (p.Cys376Arg) rs150290595 0.00032
NM_000747.3(CHRNB1):c.593A>G (p.His198Arg) rs76251791 0.00024
NM_000747.3(CHRNB1):c.753C>T (p.Asn251=) rs142067673 0.00020
NM_000747.3(CHRNB1):c.564C>T (p.Asp188=) rs77592498 0.00019
NM_000747.3(CHRNB1):c.720C>T (p.Ile240=) rs147607553 0.00018
NM_000747.3(CHRNB1):c.725G>A (p.Arg242His) rs79220301 0.00017
NM_000747.3(CHRNB1):c.1217+9A>G rs145242880 0.00014
NM_000747.3(CHRNB1):c.1218-7C>T rs779852242 0.00014
NM_000747.3(CHRNB1):c.305G>C (p.Arg102Pro) rs201915086 0.00013
NM_000747.3(CHRNB1):c.1224G>A (p.Gln408=) rs143027754 0.00011
NM_000747.3(CHRNB1):c.1045-11C>G rs375829198 0.00009
NM_000747.3(CHRNB1):c.1394T>C (p.Met465Thr) rs201776800 0.00009
NM_000747.3(CHRNB1):c.647G>A (p.Arg216Gln) rs200684767 0.00009
NM_000747.3(CHRNB1):c.754G>A (p.Val252Ile) rs751045224 0.00009
NM_000747.3(CHRNB1):c.684G>A (p.Arg228=) rs765737031 0.00008
NM_000747.3(CHRNB1):c.687A>G (p.Glu229=) rs749893562 0.00008
NM_000747.3(CHRNB1):c.300G>T (p.Ser100=) rs376099204 0.00006
NM_000747.3(CHRNB1):c.59-14C>T rs770468832 0.00006
NM_000747.3(CHRNB1):c.723C>A (p.Ile241=) rs768773947 0.00006
NM_000747.3(CHRNB1):c.771C>T (p.Ile257=) rs767109873 0.00006
NM_000747.3(CHRNB1):c.1365+16G>T rs749948799 0.00005
NM_000747.3(CHRNB1):c.852G>T (p.Leu284=) rs145826933 0.00005
NM_000747.3(CHRNB1):c.1027C>A (p.Pro343Thr) rs760292772 0.00004
NM_000747.3(CHRNB1):c.1225C>G (p.Pro409Ala) rs202144045 0.00004
NM_000747.3(CHRNB1):c.1248G>A (p.Leu416=) rs774757392 0.00004
NM_000747.3(CHRNB1):c.909A>G (p.Leu303=) rs774773039 0.00004
NM_000747.3(CHRNB1):c.90C>T (p.Leu30=) rs753018299 0.00004
NM_000747.3(CHRNB1):c.1116G>A (p.Glu372=) rs761970777 0.00003
NM_000747.3(CHRNB1):c.565G>A (p.Gly189Arg) rs555348704 0.00003
NM_000747.3(CHRNB1):c.1063C>T (p.Pro355Ser) rs780673811 0.00002
NM_000747.3(CHRNB1):c.1152T>C (p.Gly384=) rs549061953 0.00002
NM_000747.3(CHRNB1):c.1389G>A (p.Val463=) rs1283448996 0.00002
NM_000747.3(CHRNB1):c.1476C>T (p.Tyr492=) rs758446047 0.00002
NM_000747.3(CHRNB1):c.1321A>G (p.Ser441Gly) rs754895386 0.00001
NM_000747.3(CHRNB1):c.1467C>T (p.Asp489=) rs1362533670 0.00001
NM_000747.3(CHRNB1):c.183G>T (p.Ala61=) rs775849224 0.00001
NM_000747.3(CHRNB1):c.198+10C>G rs912711009 0.00001
NM_000747.3(CHRNB1):c.199-9C>T rs572576481 0.00001
NM_000747.3(CHRNB1):c.303C>T (p.Leu101=) rs748183383 0.00001
NM_000747.3(CHRNB1):c.462+7G>A rs747388705 0.00001
NM_000747.3(CHRNB1):c.673A>C (p.Arg225=) rs757402627 0.00001
NM_000747.3(CHRNB1):c.681G>A (p.Gly227=) rs201333755 0.00001
NM_000747.3(CHRNB1):c.756C>T (p.Val252=) rs754596731 0.00001
NM_000747.3(CHRNB1):c.795C>T (p.Phe265=) rs777819302 0.00001
NM_000747.3(CHRNB1):c.821-4C>A rs764035317 0.00001
NM_000747.3(CHRNB1):c.1005C>T (p.Arg335=)
NM_000747.3(CHRNB1):c.1044+12CTC[2] rs536204964
NM_000747.3(CHRNB1):c.1044+14C>T
NM_000747.3(CHRNB1):c.1044+7_1044+10del rs1311886791
NM_000747.3(CHRNB1):c.1062T>G (p.Leu354=)
NM_000747.3(CHRNB1):c.1066C>T (p.Leu356=)
NM_000747.3(CHRNB1):c.1074G>C (p.Leu358=) rs2150842897
NM_000747.3(CHRNB1):c.1137A>C (p.Pro379=) rs1597754960
NM_000747.3(CHRNB1):c.1164T>C (p.Asp388=)
NM_000747.3(CHRNB1):c.1217+10C>T
NM_000747.3(CHRNB1):c.1217+11G>A rs1017100339
NM_000747.3(CHRNB1):c.1218-10C>T rs571453172
NM_000747.3(CHRNB1):c.1218-15T>C
NM_000747.3(CHRNB1):c.1248G>C (p.Leu416=)
NM_000747.3(CHRNB1):c.129G>A (p.Arg43=) rs1597747394
NM_000747.3(CHRNB1):c.1314C>T (p.Ser438=) rs576092367
NM_000747.3(CHRNB1):c.1329C>T (p.Ile443=)
NM_000747.3(CHRNB1):c.1362T>C (p.Asp454=) rs2150843392
NM_000747.3(CHRNB1):c.1365+18G>A
NM_000747.3(CHRNB1):c.1410C>T (p.Leu470=)
NM_000747.3(CHRNB1):c.1437C>T (p.Thr479=) rs1056901434
NM_000747.3(CHRNB1):c.1497C>T (p.Pro499=) rs1337697871
NM_000747.3(CHRNB1):c.189C>T (p.Leu63=)
NM_000747.3(CHRNB1):c.192C>T (p.Ile64=) rs2150837030
NM_000747.3(CHRNB1):c.198+14G>C
NM_000747.3(CHRNB1):c.198+14G>T
NM_000747.3(CHRNB1):c.198+15G>A rs199665345
NM_000747.3(CHRNB1):c.198+17G>C
NM_000747.3(CHRNB1):c.198+7G>T
NM_000747.3(CHRNB1):c.199-13T>G rs2150837467
NM_000747.3(CHRNB1):c.199-8C>G
NM_000747.3(CHRNB1):c.244-14C>G
NM_000747.3(CHRNB1):c.300G>A (p.Ser100=) rs376099204
NM_000747.3(CHRNB1):c.306C>T (p.Arg102=)
NM_000747.3(CHRNB1):c.312G>A (p.Thr104=)
NM_000747.3(CHRNB1):c.321C>T (p.Ser107=)
NM_000747.3(CHRNB1):c.330C>G (p.Leu110=) rs760133867
NM_000747.3(CHRNB1):c.336C>T (p.Asp112=)
NM_000747.3(CHRNB1):c.354-6C>G
NM_000747.3(CHRNB1):c.372C>T (p.Asp124=)
NM_000747.3(CHRNB1):c.387T>C (p.Ile129=)
NM_000747.3(CHRNB1):c.399G>A (p.Val133=)
NM_000747.3(CHRNB1):c.408C>T (p.Asp136=)
NM_000747.3(CHRNB1):c.429C>G (p.Pro143=)
NM_000747.3(CHRNB1):c.432G>A (p.Pro144=)
NM_000747.3(CHRNB1):c.462+20G>A
NM_000747.3(CHRNB1):c.477C>G (p.Pro159=)
NM_000747.3(CHRNB1):c.480C>T (p.Phe160=) rs1416889935
NM_000747.3(CHRNB1):c.516C>T (p.Tyr172=)
NM_000747.3(CHRNB1):c.531G>A (p.Ser177=) rs886053393
NM_000747.3(CHRNB1):c.531G>T (p.Ser177=) rs886053393
NM_000747.3(CHRNB1):c.58+12C>A
NM_000747.3(CHRNB1):c.58+20G>A rs1908548076
NM_000747.3(CHRNB1):c.610+13G>T
NM_000747.3(CHRNB1):c.611-15_611-13del rs752595679
NM_000747.3(CHRNB1):c.611-6C>T
NM_000747.3(CHRNB1):c.611-9C>G rs538827412
NM_000747.3(CHRNB1):c.612G>A (p.Glu204=) rs754405279
NM_000747.3(CHRNB1):c.663A>T (p.Pro221=) rs759723394
NM_000747.3(CHRNB1):c.745C>T (p.Leu249=)
NM_000747.3(CHRNB1):c.784C>T (p.Leu262=)
NM_000747.3(CHRNB1):c.78G>A (p.Ala26=) rs776631018
NM_000747.3(CHRNB1):c.820+16G>T
NM_000747.3(CHRNB1):c.821-14C>T
NM_000747.3(CHRNB1):c.850C>T (p.Leu284=)
NM_000747.3(CHRNB1):c.877C>T (p.Leu293=) rs956543933
NM_000747.3(CHRNB1):c.930G>A (p.Lys310=)
NM_000747.3(CHRNB1):c.972C>T (p.Ile324=) rs781190969
NM_000747.3(CHRNB1):c.981C>T (p.Val327=)
NM_000747.3(CHRNB1):c.993C>T (p.Asn331=)

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