List of variants in gene CHRNA1 reported as uncertain significance for congenital myasthenic syndrome 1A

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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: 8

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HGVS	dbSNP	gnomAD frequency
NM_000079.4(CHRNA1):c.935C>A (p.Thr312Asn)	rs746404398	0.00003
NM_000079.4(CHRNA1):c.685C>T (p.Arg229Cys)	rs745355427	0.00001
NM_000079.4(CHRNA1):c.1003G>T (p.Val335Phe)
NM_000079.4(CHRNA1):c.191A>C (p.Asp64Ala)
NM_000079.4(CHRNA1):c.298A>T (p.Ile100Phe)	rs752761320
NM_000079.4(CHRNA1):c.746C>A (p.Thr249Asn)
NM_000079.4(CHRNA1):c.766C>A (p.Pro256Thr)	rs1683899724
NM_000079.4(CHRNA1):c.902C>G (p.Thr301Ser)	rs2105345315

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