ClinVar Miner

List of variants in gene ELN reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
ClinVar version:
Total variants: 14
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NM_000501.4(ELN):c.1178_1201del (p.Gly393_Gly400del) rs781838239
NM_000501.4(ELN):c.1264G>A (p.Gly422Ser) rs2071307
NM_000501.4(ELN):c.1269C>T (p.Val423=) rs61734583
NM_000501.4(ELN):c.1315+17C>T rs2856728
NM_000501.4(ELN):c.1358-198G>A rs192461213
NM_000501.4(ELN):c.1566T>A (p.Gly522=) rs61734584
NM_000501.4(ELN):c.1946_1954dup (p.646_648GLG[3]) rs1554686832
NM_000501.4(ELN):c.425C>A (p.Pro142Gln) rs1013508230
NM_000501.4(ELN):c.470-10C>G rs200663056
NM_000501.4(ELN):c.493G>T (p.Val165Leu) rs61734581
NM_000501.4(ELN):c.647G>T (p.Gly216Val) rs145612009
NM_000501.4(ELN):c.892G>A (p.Val298Ile) rs41526244
NM_000501.4(ELN):c.914_930delinsGCT (p.Ala305fs) rs886044834

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