ClinVar Miner

List of variants in gene CHRNB1 studied for Congenital myasthenic syndrome 2A; Congenital myasthenic syndrome 2C

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

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000747.3(CHRNB1):c.1424T>C (p.Phe475Ser)	rs148533702	0.00052
NM_000747.3(CHRNB1):c.1365+5G>C	rs1051316024	0.00003
NM_000747.3(CHRNB1):c.544C>T (p.Gln182Ter)

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