ClinVar Miner

List of variants in gene CHRNE reported as pathogenic for congenital myasthenic syndrome

Included ClinVar conditions (53):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_000080.4(CHRNE):c.1007_1025del (p.His336fs) rs1268475945 0.00003
NM_000080.4(CHRNE):c.971del (p.Ile324fs) rs879255562 0.00003
NM_000080.4(CHRNE):c.1220-1G>A rs373710822 0.00001
NC_000017.10:g.(?_4802021)_(4802196_?)del
NM_000080.4(CHRNE):c.1002_1008dup (p.Ala337fs)
NM_000080.4(CHRNE):c.1012del (p.Met338fs) rs2151095155
NM_000080.4(CHRNE):c.1030del (p.His344fs) rs879253723
NM_000080.4(CHRNE):c.1032+1G>C
NM_000080.4(CHRNE):c.1116_1128del (p.Ser373fs)
NM_000080.4(CHRNE):c.1121C>A (p.Ser374Ter) rs768869197
NM_000080.4(CHRNE):c.1220-2A>G rs1309292778
NM_000080.4(CHRNE):c.1220-8_1227dup rs2151094080
NM_000080.4(CHRNE):c.1231C>T (p.Gln411Ter) rs1969839736
NM_000080.4(CHRNE):c.1238dup (p.Ala415fs)
NM_000080.4(CHRNE):c.1248_1266dup (p.Cys423fs)
NM_000080.4(CHRNE):c.1250_1268dup (p.Val424fs) rs781774131
NM_000080.4(CHRNE):c.1251_1266dup (p.Cys423fs) rs748694848
NM_000080.4(CHRNE):c.1252_1267dup (p.Cys423fs) rs1597613479
NM_000080.4(CHRNE):c.1254dup (p.Glu419fs) rs769945146
NM_000080.4(CHRNE):c.1255G>T (p.Glu419Ter) rs754975887
NM_000080.4(CHRNE):c.1258del (p.Val420fs)
NM_000080.4(CHRNE):c.1271_1290del (p.Val424fs) rs2151093952
NM_000080.4(CHRNE):c.1291G>C (p.Ala431Pro) rs121909517
NM_000080.4(CHRNE):c.1306_1307del (p.Asp436fs) rs1194524772
NM_000080.4(CHRNE):c.1319_1326+15del rs1208462125
NM_000080.4(CHRNE):c.1323dup (p.Glu442fs) rs1597613302
NM_000080.4(CHRNE):c.1326+1G>A rs1430654625
NM_000080.4(CHRNE):c.1326+2T>C rs1597613279
NM_000080.4(CHRNE):c.1332del (p.Ser445fs)
NM_000080.4(CHRNE):c.1341G>A (p.Trp447Ter) rs918839874
NM_000080.4(CHRNE):c.1353dup (p.Asn452fs) rs773526895
NM_000080.4(CHRNE):c.1364ACA[1] (p.Asn456del) rs748289906
NM_000080.4(CHRNE):c.1371del (p.Cys458fs) rs1597612665
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.1383_1393del (p.Ala462fs)
NM_000080.4(CHRNE):c.1429del (p.Ala477fs) rs1396286715
NM_000080.4(CHRNE):c.966C>A (p.Cys322Ter) rs56377005
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

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