ClinVar Miner

List of variants in gene GNE studied for not specified

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Total variants: 24
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HGVS dbSNP
NM_001128227.2(GNE):c.-10G>A rs73449614
NM_001128227.2(GNE):c.1163+2dupT rs886043636
NM_001128227.2(GNE):c.1163+36A>C rs377589477
NM_001128227.2(GNE):c.1326C>T (p.Ala442=) rs1057523203
NM_001128227.2(GNE):c.1338C>A (p.Gly446=) rs140784655
NM_001128227.2(GNE):c.1338C>T (p.Gly446=) rs140784655
NM_001128227.2(GNE):c.1374+44G>A rs16933102
NM_001128227.2(GNE):c.1386T>A (p.Val462=) rs143485388
NM_001128227.2(GNE):c.1863C>T (p.Tyr621=) rs111302956
NM_001128227.2(GNE):c.2001G>A (p.Ala667=) rs200812140
NM_001128227.2(GNE):c.2027-36T>A rs375573973
NM_001128227.2(GNE):c.2179G>T (p.Val727Leu) rs121908627
NM_001128227.2(GNE):c.258-18A>G rs374105190
NM_001128227.2(GNE):c.258-9C>T rs760509369
NM_001128227.2(GNE):c.51+17T>G rs144416128
NM_001128227.2(GNE):c.51+34T>C rs7875447
NM_001128227.2(GNE):c.693C>T (p.Ile231=) rs7047950
NM_001128227.2(GNE):c.717T>G (p.Asp239Glu) rs35224402
NM_001128227.2(GNE):c.858C>T (p.Asp286=) rs775805166
NM_001128227.2(GNE):c.862+4dupA rs756817842
NM_001128227.2(GNE):c.897G>A (p.Lys299=) rs141814943
NM_001128227.2(GNE):c.936C>T (p.His312=) rs138694766
NM_005476.5(GNE):c.1281+6A>T rs201025841
NM_005476.5(GNE):c.1872G>A (p.Ala624=) rs145361930

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