ClinVar Miner

List of variants in gene GNE reported as likely pathogenic by GeneDx

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Gene type:
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Total variants: 4
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HGVS dbSNP
NM_005476.7(GNE):c.1500_1529delinsA (p.Arg501fs) rs1554658924
NM_005476.7(GNE):c.1710_1712TGT[1] (p.Val572del) rs762796465
NM_005476.7(GNE):c.1798G>A (p.Ala600Thr) rs387906347
NM_005476.7(GNE):c.694del (p.Met232fs) rs1554661549

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