ClinVar Miner

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

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Gene type:
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Total variants: 20
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HGVS dbSNP
NC_000009.12:g.36223003G>A
NC_000009.12:g.36277137G>A
NM_001128227.3(GNE):c.51+17T>G rs144416128
NM_001128227.3(GNE):c.51+63A>G
NM_005476.7(GNE):c.1233C>T (p.Ala411=) rs1057523203
NM_005476.7(GNE):c.1242T>C (p.Leu414=) rs371881711
NM_005476.7(GNE):c.1251G>A (p.Thr417=)
NM_005476.7(GNE):c.1281+6A>T rs201025841
NM_005476.7(GNE):c.1293T>A (p.Val431=) rs143485388
NM_005476.7(GNE):c.1509C>G (p.Pro503=) rs141172610
NM_005476.7(GNE):c.1633+341G>T
NM_005476.7(GNE):c.165-18A>G rs374105190
NM_005476.7(GNE):c.165-9C>T rs760509369
NM_005476.7(GNE):c.1872G>A (p.Ala624=) rs145361930
NM_005476.7(GNE):c.1908G>A (p.Ala636=) rs200812140
NM_005476.7(GNE):c.617-260A>C
NM_005476.7(GNE):c.624T>G (p.Asp208Glu) rs35224402
NM_005476.7(GNE):c.765C>T (p.Asp255=) rs775805166
NM_005476.7(GNE):c.804G>A (p.Lys268=) rs141814943
NM_005476.7(GNE):c.843C>T (p.His281=) rs138694766

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