List of variants in gene CHRNA1 reported as benign for congenital myasthenic syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000079.4(CHRNA1):c.235-385C>T	rs2646164	0.99734
NM_000079.4(CHRNA1):c.1003-53A>G	rs2646159	0.87287
NM_000079.4(CHRNA1):c.960C>T (p.His320=)	rs2229957	0.08849
NM_000079.4(CHRNA1):c.1073A>T (p.Asp358Val)	rs6739001	0.02064
NM_000079.4(CHRNA1):c.540+4G>C	rs112674580	0.01914
NM_000079.4(CHRNA1):c.*426C>A	rs115375214	0.00774
NM_000079.4(CHRNA1):c.1233G>T (p.Glu411Asp)	rs61737716	0.00561
NM_000079.4(CHRNA1):c.190-5del	rs34695580
NM_000079.4(CHRNA1):c.43+59G>T	rs7560774

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