ClinVar Miner

List of variants reported as pathogenic for Congenital myasthenic syndrome 5 by Mendelics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_005677.4(COLQ):c.219+1G>C	rs149020371	0.00001
NM_005677.4(COLQ):c.1195+2T>G	rs2125085333
NM_005677.4(COLQ):c.157dup (p.Leu53fs)	rs971863968

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