ClinVar Miner

List of variants in gene ELN reported as uncertain significance for not provided

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Total variants: 27
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HGVS dbSNP
NM_000501.4(ELN):c.1178_1201del (p.Gly393_Gly400del) rs781838239
NM_000501.4(ELN):c.1315+1G>A
NM_000501.4(ELN):c.1358-198G>A rs192461213
NM_000501.4(ELN):c.1358-199G>A
NM_000501.4(ELN):c.1363G>A (p.Gly455Arg)
NM_000501.4(ELN):c.145G>A (p.Gly49Arg) rs144757453
NM_000501.4(ELN):c.1537G>A (p.Val513Ile) rs372788076
NM_000501.4(ELN):c.1622-6C>T
NM_000501.4(ELN):c.1675G>A (p.Val559Ile) rs560081099
NM_000501.4(ELN):c.1781A>C (p.Lys594Thr) rs782679448
NM_000501.4(ELN):c.1849G>A (p.Gly617Ser) rs781904032
NM_000501.4(ELN):c.1943G>A (p.Gly648Glu) rs140085632
NM_000501.4(ELN):c.1994-2A>C rs1440841207
NM_000501.4(ELN):c.2032G>A (p.Gly678Ser) rs375579231
NM_000501.4(ELN):c.2077C>T (p.Pro693Ser) rs369804770
NM_000501.4(ELN):c.2132-7C>A rs782755390
NM_000501.4(ELN):c.328G>A (p.Ala110Thr) rs137953195
NM_000501.4(ELN):c.328G>T (p.Ala110Ser) rs137953195
NM_000501.4(ELN):c.425C>A (p.Pro142Gln) rs1013508230
NM_000501.4(ELN):c.460G>A (p.Val154Met) rs145669576
NM_000501.4(ELN):c.470-10C>G rs200663056
NM_000501.4(ELN):c.473C>T (p.Ala158Val) rs201137255
NM_000501.4(ELN):c.476G>A (p.Arg159Gln) rs369045063
NM_000501.4(ELN):c.571+7C>T rs863223523
NM_000501.4(ELN):c.594G>A (p.Pro198=) rs140337204
NM_000501.4(ELN):c.647G>T (p.Gly216Val) rs145612009
NM_000501.4(ELN):c.686-5T>G

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