List of variants in gene CHRNA1 studied for myasthenic syndrome, congenital, 1B, fast-channel

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 17

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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.935C>A (p.Thr312Asn)	rs746404398	0.00003
NM_000079.4(CHRNA1):c.913G>A (p.Val305Ile)	rs137852804	0.00001
NM_000079.4(CHRNA1):c.997C>T (p.Arg333Trp)	rs374391312	0.00001
NM_000079.4(CHRNA1):c.190-5del	rs34695580
NM_000079.4(CHRNA1):c.191A>C (p.Asp64Ala)
NM_000079.4(CHRNA1):c.235-353G>A	rs2105350984
NM_000079.4(CHRNA1):c.271G>A (p.Asp91Asn)	rs1684008469
NM_000079.4(CHRNA1):c.298A>T (p.Ile100Phe)	rs752761320
NM_000079.4(CHRNA1):c.376A>G (p.Thr126Ala)
NM_000079.4(CHRNA1):c.43+59G>T	rs7560774
NM_000079.4(CHRNA1):c.441del (p.Cys148fs)
NM_000079.4(CHRNA1):c.454G>C (p.Val152Leu)	rs137852807
NM_000079.4(CHRNA1):c.518dup (p.Ser174fs)	rs1064793397
NM_000079.4(CHRNA1):c.757T>G (p.Phe253Val)	rs137852805
NM_000079.4(CHRNA1):c.826T>C (p.Phe276Leu)	rs137852806

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