ClinVar Miner

List of variants studied for Congenital myasthenic syndrome 5 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_005677.4(COLQ):c.1195+1G>A	rs755782087	0.00001
NM_005677.4(COLQ):c.943C>T (p.Arg315Ter)	rs121908924	0.00001
NM_005677.4(COLQ):c.954+1G>A	rs757060689	0.00001
NM_005677.4(COLQ):c.393+1G>A	rs1085307792

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