ClinVar Miner

List of variants reported as pathogenic for congenital myasthenic syndrome 4A by Baylor Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_000080.4(CHRNE):c.103T>C (p.Tyr35His) rs144169073 0.00061
NM_000080.4(CHRNE):c.971del (p.Ile324fs) rs879255562 0.00003
NM_000080.4(CHRNE):c.183_187dup (p.Leu63fs) rs776927709 0.00002
NM_000080.4(CHRNE):c.803-2A>G rs1320610655 0.00002
NM_000080.4(CHRNE):c.1033-1G>C rs755303686 0.00001
NM_000080.4(CHRNE):c.1220-1G>A rs373710822 0.00001
NM_000080.4(CHRNE):c.422C>T (p.Pro141Leu) rs121909512 0.00001
NM_000080.4(CHRNE):c.529_551del (p.Glu177fs) rs758687208 0.00001
NM_000080.4(CHRNE):c.1002_1008dup (p.Ala337fs)
NM_000080.4(CHRNE):c.1062_1081dup (p.Glu361fs) rs2151094729
NM_000080.4(CHRNE):c.1072_1091del (p.Pro358fs) rs932032926
NM_000080.4(CHRNE):c.1090del (p.Arg364fs)
NM_000080.4(CHRNE):c.1090dup (p.Arg364fs) rs1156634884
NM_000080.4(CHRNE):c.1093del (p.Ala365fs) rs886043239
NM_000080.4(CHRNE):c.1116_1128del (p.Ser373fs)
NM_000080.4(CHRNE):c.1158dup (p.Lys387fs) rs2151094540
NM_000080.4(CHRNE):c.1161_1162insT (p.Lys388Ter) rs886037628
NM_000080.4(CHRNE):c.1181_1187dup (p.Glu396delinsAspValTer) rs1423995073
NM_000080.4(CHRNE):c.1204C>T (p.Gln402Ter)
NM_000080.4(CHRNE):c.1216_1219+19del rs760623071
NM_000080.4(CHRNE):c.1219+2T>G rs2151094378
NM_000080.4(CHRNE):c.1220-2A>G rs1309292778
NM_000080.4(CHRNE):c.1220-8_1227dup rs2151094080
NM_000080.4(CHRNE):c.1248_1266dup (p.Cys423fs)
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.1291G>C (p.Ala431Pro) rs121909517
NM_000080.4(CHRNE):c.130dup (p.Glu44fs) rs762368691
NM_000080.4(CHRNE):c.1319_1326+15del rs1208462125
NM_000080.4(CHRNE):c.1327del rs763258280
NM_000080.4(CHRNE):c.1353dup (p.Asn452fs) rs773526895
NM_000080.4(CHRNE):c.1364ACA[1] (p.Asn456del) rs748289906
NM_000080.4(CHRNE):c.1429del (p.Ala477fs) rs1396286715
NM_000080.4(CHRNE):c.295C>T (p.Arg99Ter) rs1278514080
NM_000080.4(CHRNE):c.355C>T (p.Gln119Ter)
NM_000080.4(CHRNE):c.372C>G (p.Tyr124Ter) rs894382905
NM_000080.4(CHRNE):c.46+2del
NM_000080.4(CHRNE):c.614_620del (p.Trp205fs) rs753828284
NM_000080.4(CHRNE):c.617_635del (p.Ala206fs) rs1969972830
NM_000080.4(CHRNE):c.684_687del (p.Asp229fs) rs1597619440
NM_000080.4(CHRNE):c.712C>T (p.Arg238Trp) rs1567638676
NM_000080.4(CHRNE):c.764C>T (p.Ser255Leu) rs1555546765
NM_000080.4(CHRNE):c.794del (p.Pro265fs) rs756675414
NM_000080.4(CHRNE):c.876del (p.Ile294fs)
NM_000080.4(CHRNE):c.878_887dup (p.Thr297fs)
NM_000080.4(CHRNE):c.917G>T (p.Arg306Met) rs2151096983
NM_000080.4(CHRNE):c.918-1G>A rs1407243713
NM_000080.4(CHRNE):c.988C>T (p.Gln330Ter)
NM_000080.4(CHRNE):c.992G>A (p.Arg331Gln) rs760022829

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