ClinVar Miner

List of variants in gene combination C17orf107, 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: 94
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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.710G>T (p.Arg237Leu) rs201434993 0.00010
NM_000080.4(CHRNE):c.-95G>A rs990457690 0.00003
NM_000080.4(CHRNE):c.183_187dup (p.Leu63fs) rs776927709 0.00002
NM_000080.4(CHRNE):c.293T>C (p.Leu98Pro) rs28929768 0.00002
NM_000080.4(CHRNE):c.37G>A (p.Gly13Arg) rs372635387 0.00002
NM_000080.4(CHRNE):c.803-2A>G rs1320610655 0.00002
NM_000080.4(CHRNE):c.-96C>T rs748144899 0.00001
NM_000080.4(CHRNE):c.422C>T (p.Pro141Leu) rs121909512 0.00001
NM_000080.4(CHRNE):c.500G>T (p.Arg167Leu) rs121909514 0.00001
NM_000080.4(CHRNE):c.529_551del (p.Glu177fs) rs758687208 0.00001
NM_000080.4(CHRNE):c.84T>G (p.Tyr28Ter) rs748103983 0.00001
NC_000017.10:g.(?_4805539)_(4806690_?)del
NC_000017.11:g.(?_4901641)_(4903159_?)del
NM_000080.4(CHRNE):c.105T>A (p.Tyr35Ter) rs2151098928
NM_000080.4(CHRNE):c.114_118dup (p.Arg40fs) rs2151098905
NM_000080.4(CHRNE):c.115dup (p.Ser39fs) rs977512223
NM_000080.4(CHRNE):c.11_14dup (p.Leu6fs)
NM_000080.4(CHRNE):c.130dup (p.Glu44fs) rs762368691
NM_000080.4(CHRNE):c.223T>C (p.Trp75Arg) rs193919341
NM_000080.4(CHRNE):c.224G>A (p.Trp75Ter)
NM_000080.4(CHRNE):c.240G>A (p.Trp80Ter)
NM_000080.4(CHRNE):c.250C>T (p.Arg84Ter) rs121909513
NM_000080.4(CHRNE):c.250del (p.Arg84fs) rs1555547003
NM_000080.4(CHRNE):c.264del (p.Ser88fs)
NM_000080.4(CHRNE):c.293dup (p.Arg99fs)
NM_000080.4(CHRNE):c.295C>T (p.Arg99Ter) rs1278514080
NM_000080.4(CHRNE):c.313_319del (p.Val105fs)
NM_000080.4(CHRNE):c.316_317del (p.Trp106fs) rs2151098538
NM_000080.4(CHRNE):c.318G>A (p.Trp106Ter)
NM_000080.4(CHRNE):c.327_328dup (p.Ile110fs)
NM_000080.4(CHRNE):c.344+1G>A rs879253722
NM_000080.4(CHRNE):c.355C>T (p.Gln119Ter)
NM_000080.4(CHRNE):c.361G>T (p.Gly121Ter) rs1187421976
NM_000080.4(CHRNE):c.372C>G (p.Tyr124Ter) rs894382905
NM_000080.4(CHRNE):c.393C>G (p.Tyr131Ter)
NM_000080.4(CHRNE):c.400_403dup (p.Ser135fs)
NM_000080.4(CHRNE):c.421C>A (p.Pro141Thr) rs483353045
NM_000080.4(CHRNE):c.439_440insGAGGTCA (p.Val147fs) rs2151098295
NM_000080.4(CHRNE):c.442T>A (p.Cys148Ser) rs1597621396
NM_000080.4(CHRNE):c.445_458delinsA (p.Ala149fs) rs1597621353
NM_000080.4(CHRNE):c.447_459del (p.Val150fs) rs1970005446
NM_000080.4(CHRNE):c.452_454del (p.Glu151del) rs2151098283
NM_000080.4(CHRNE):c.453_454dup (p.Val152fs)
NM_000080.4(CHRNE):c.46+2del
NM_000080.4(CHRNE):c.477G>A (p.Trp159Ter)
NM_000080.4(CHRNE):c.488C>T (p.Ser163Leu) rs121909516
NM_000080.4(CHRNE):c.501-16G>A rs879255563
NM_000080.4(CHRNE):c.505C>T (p.Gln169Ter)
NM_000080.4(CHRNE):c.520G>T (p.Glu174Ter)
NM_000080.4(CHRNE):c.551dup (p.Asn184fs)
NM_000080.4(CHRNE):c.569dup (p.Asn190fs)
NM_000080.4(CHRNE):c.583G>A (p.Asp195Asn)
NM_000080.4(CHRNE):c.589G>T (p.Glu197Ter)
NM_000080.4(CHRNE):c.590_591del (p.Glu197fs) rs2151097742
NM_000080.4(CHRNE):c.606_619del (p.Gly203fs) rs1969973509
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.647_653dup (p.His218fs) rs2151097420
NM_000080.4(CHRNE):c.653_666dup (p.Asp223fs)
NM_000080.4(CHRNE):c.67G>T (p.Glu23Ter)
NM_000080.4(CHRNE):c.684_687del (p.Asp229fs) rs1597619440
NM_000080.4(CHRNE):c.687del (p.Asp229fs)
NM_000080.4(CHRNE):c.712C>T (p.Arg238Trp) rs1567638676
NM_000080.4(CHRNE):c.721C>T (p.Leu241Phe) rs28999110
NM_000080.4(CHRNE):c.750_751del (p.Val252fs)
NM_000080.4(CHRNE):c.764C>T (p.Ser255Leu) rs1555546765
NM_000080.4(CHRNE):c.790del (p.Leu264fs)
NM_000080.4(CHRNE):c.793C>T (p.Pro265Ser) rs2151097209
NM_000080.4(CHRNE):c.794C>T (p.Pro265Leu) rs759226183
NM_000080.4(CHRNE):c.794del (p.Pro265fs) rs756675414
NM_000080.4(CHRNE):c.802+1G>A
NM_000080.4(CHRNE):c.802+2T>A
NM_000080.4(CHRNE):c.802+2T>C rs2151097188
NM_000080.4(CHRNE):c.811C>T (p.Gln271Ter)
NM_000080.4(CHRNE):c.829dup (p.Ile277fs) rs2151097082
NM_000080.4(CHRNE):c.835G>T (p.Val279Phe) rs1597618854
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.850A>C (p.Thr284Pro) rs121909510
NM_000080.4(CHRNE):c.852del (p.Val285fs)
NM_000080.4(CHRNE):c.854T>C (p.Val285Ala) rs1597618787
NM_000080.4(CHRNE):c.865C>T (p.Leu289Phe) rs121909511
NM_000080.4(CHRNE):c.866del (p.Leu289fs)
NM_000080.4(CHRNE):c.874C>T (p.Gln292Ter)
NM_000080.4(CHRNE):c.876del (p.Ile294fs)
NM_000080.4(CHRNE):c.878_887dup (p.Thr297fs)
NM_000080.4(CHRNE):c.892_894del (p.Ser298del) rs398122830
NM_000080.4(CHRNE):c.905C>G (p.Pro302Arg) rs370019023
NM_000080.4(CHRNE):c.916A>G (p.Arg306Gly) rs1969955431
NM_000080.4(CHRNE):c.917G>T (p.Arg306Met) rs2151096983
NM_000080.4(CHRNE):c.918-1G>A rs1407243713
NM_000080.4(CHRNE):c.934_936del (p.Met312del) rs1555546465
NM_000080.4(CHRNE):c.951_954del (p.Ile318fs)

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