ClinVar Miner

List of variants in gene C17orf107, CHRNE studied for Congenital myasthenic syndrome 4A; Congenital myasthenic syndrome 4C; Congenital myasthenic syndrome 4B

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Gene type:
ClinVar version:
Total variants: 38
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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.581T>C (p.Ile194Thr) rs146931108 0.00042
NM_000080.4(CHRNE):c.896T>C (p.Leu299Pro) rs142735836 0.00014
NM_000080.4(CHRNE):c.710G>T (p.Arg237Leu) rs201434993 0.00010
NM_000080.4(CHRNE):c.118C>T (p.Arg40Trp) rs754001856 0.00002
NM_000080.4(CHRNE):c.569A>G (p.Asn190Ser) rs753756406 0.00002
NM_000080.4(CHRNE):c.803-2A>G rs1320610655 0.00002
NC_000017.11:g.4903159G>A rs748144899 0.00001
NM_000080.4(CHRNE):c.26T>G (p.Leu9Arg) rs1344336890 0.00001
NM_000080.4(CHRNE):c.500G>T (p.Arg167Leu) rs121909514 0.00001
NM_000080.4(CHRNE):c.105T>A (p.Tyr35Ter) rs2151098928
NM_000080.4(CHRNE):c.130dup (p.Glu44fs) rs762368691
NM_000080.4(CHRNE):c.219dup (p.Val74fs)
NM_000080.4(CHRNE):c.235-2A>G rs1597622118
NM_000080.4(CHRNE):c.2T>C (p.Met1Thr)
NM_000080.4(CHRNE):c.439G>A (p.Val147Ile) rs771950733
NM_000080.4(CHRNE):c.445_458delinsA (p.Ala149fs) rs1597621353
NM_000080.4(CHRNE):c.488C>T (p.Ser163Leu) rs121909516
NM_000080.4(CHRNE):c.500+5G>T
NM_000080.4(CHRNE):c.501-10_504dup rs768552387
NM_000080.4(CHRNE):c.501-16G>A rs879255563
NM_000080.4(CHRNE):c.569dup (p.Asn190fs)
NM_000080.4(CHRNE):c.601+1G>T
NM_000080.4(CHRNE):c.602-4_602-3delinsTT rs1597619689
NM_000080.4(CHRNE):c.610G>A (p.Glu204Lys) rs2151097489
NM_000080.4(CHRNE):c.614G>A (p.Trp205Ter)
NM_000080.4(CHRNE):c.614_620del (p.Trp205fs) rs753828284
NM_000080.4(CHRNE):c.627del (p.Cys210fs)
NM_000080.4(CHRNE):c.710G>A (p.Arg237His) rs201434993
NM_000080.4(CHRNE):c.764C>T (p.Ser255Leu) rs1555546765
NM_000080.4(CHRNE):c.794C>T (p.Pro265Leu) rs759226183
NM_000080.4(CHRNE):c.794del (p.Pro265fs) rs756675414
NM_000080.4(CHRNE):c.847C>T (p.Gln283Ter) rs773929089
NM_000080.4(CHRNE):c.848_852dup (p.Val285fs) rs1567638401
NM_000080.4(CHRNE):c.860dup (p.Leu287fs)
NM_000080.4(CHRNE):c.905C>G (p.Pro302Arg) rs370019023
NM_000080.4(CHRNE):c.917G>T (p.Arg306Met) rs2151096983
NM_000080.4(CHRNE):c.934_936del (p.Met312del) rs1555546465

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