List of variants in gene CHRNE reported as pathogenic for Congenital myasthenic syndrome 4A

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 41

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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
NM_000080.4(CHRNE):c.1220-2A>G	rs1309292778	0.00001
NM_000080.4(CHRNE):c.1231C>T (p.Gln411Ter)	rs1969839736	0.00001
NM_000080.4(CHRNE):c.1341G>A (p.Trp447Ter)	rs918839874	0.00001
NM_000080.4(CHRNE):c.992G>A (p.Arg331Gln)	rs760022829	0.00001
NC_000017.10:g.(?_4802021)_(4802196_?)del
NM_000080.4(CHRNE):c.1002_1008dup (p.Ala337fs)	rs757396750
NM_000080.4(CHRNE):c.1012del (p.Met338fs)	rs2151095155
NM_000080.4(CHRNE):c.1116_1128del (p.Ser373fs)	rs1398583523
NM_000080.4(CHRNE):c.1121C>A (p.Ser374Ter)	rs768869197
NM_000080.4(CHRNE):c.1220-8_1227dup	rs2151094080
NM_000080.4(CHRNE):c.1238dup (p.Ala415fs)	rs2507539355
NM_000080.4(CHRNE):c.1248_1266dup (p.Cys423fs)	rs1567635867
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)	rs1455970082
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.1299_1306del (p.Ser433fs)
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)	rs2509299907
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)	rs1157836847
NM_000080.4(CHRNE):c.1380G>A (p.Trp460Ter)	rs1555546096
NM_000080.4(CHRNE):c.1381_1390del (p.Ala461fs)	rs2509299493
NM_000080.4(CHRNE):c.1383_1393del (p.Ala462fs)	rs2509299464
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)	rs2507543742

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