ClinVar Miner

List of variants reported as pathogenic for GNE myopathy by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_005476.7(GNE):c.1132G>T (p.Asp378Tyr)	rs199877522	0.00021
NM_005476.7(GNE):c.2135T>C (p.Met712Thr)	rs28937594	0.00001

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