List of variants in gene CHRNE, LOC130060040 studied for Congenital myasthenic syndrome

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000080.4(CHRNE):c.1169G>C (p.Arg390Pro)	rs568952207	0.00019
NM_000080.4(CHRNE):c.1183T>G (p.Phe395Val)	rs755802710	0.00011
NM_000080.4(CHRNE):c.1168C>T (p.Arg390Trp)	rs140763858	0.00005
NM_000080.4(CHRNE):c.1211C>T (p.Thr404Ile)	rs747853975	0.00002
NM_000080.4(CHRNE):c.1142C>T (p.Ala381Val)	rs756786529
NM_000080.4(CHRNE):c.1144GAG[1] (p.Glu383del)	rs961784740
NM_000080.4(CHRNE):c.1173C>A (p.Ser391Arg)	rs146921234
NM_000080.4(CHRNE):c.1180G>T (p.Val394Leu)	rs772486503
NM_000080.4(CHRNE):c.1205A>G (p.Gln402Arg)	rs1969848501
NM_000080.4(CHRNE):c.1218G>A (p.Thr406=)	rs751373916

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