ClinVar Miner

List of variants reported as pathogenic for Congenital myasthenic syndrome 5 by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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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
GRCh38/hg38 3p25.1(chr3:15488109-15489735)x0
NM_005677.4(COLQ):c.1061G>A (p.Trp354Ter)	rs2125086401

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