ClinVar Miner

List of variants reported as likely pathogenic for GNE myopathy by Juno Genomics, Hangzhou Juno Genomics, Inc

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001128227.3(GNE):c.18T>A (p.Tyr6Ter)	rs200763627	0.00004
NM_005476.7(GNE):c.1771G>A (p.Ala591Thr)	rs752286512	0.00001
NM_005476.7(GNE):c.1057A>G (p.Lys353Glu)	rs1554660090

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