List of variants in gene combination C17orf107, CHRNE reported as uncertain significance for Congenital myasthenic syndrome 4A; Congenital myasthenic syndrome 4C; Congenital myasthenic syndrome 4B

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000080.4(CHRNE):c.581T>C (p.Ile194Thr)	rs146931108	0.00044
NM_000080.4(CHRNE):c.896T>C (p.Leu299Pro)	rs142735836	0.00013
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.26T>G (p.Leu9Arg)	rs1344336890	0.00001
NM_000080.4(CHRNE):c.569A>G (p.Asn190Ser)	rs753756406	0.00001
NM_000080.4(CHRNE):c.401G>A (p.Gly134Asp)
NM_000080.4(CHRNE):c.439G>A (p.Val147Ile)	rs771950733
NM_000080.4(CHRNE):c.500+5G>T
NM_000080.4(CHRNE):c.535A>C (p.Thr179Pro)	rs748624980
NM_000080.4(CHRNE):c.602-4_602-3delinsTT	rs1597619689
NM_000080.4(CHRNE):c.710G>A (p.Arg237His)	rs201434993
NM_000080.4(CHRNE):c.917G>T (p.Arg306Met)	rs2151096983

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