ClinVar Miner

Variants in gene ELN with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 28
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HGVS dbSNP gnomAD frequency
NM_000501.4(ELN):c.470-10C>G rs200663056 0.00053
NM_000501.4(ELN):c.326G>A (p.Gly109Asp) rs145519139 0.00040
NM_000501.4(ELN):c.1358-225T>C rs375867140 0.00036
NM_000501.4(ELN):c.1358-199G>A rs781963901 0.00034
NM_000501.4(ELN):c.647G>T (p.Gly216Val) rs145612009 0.00034
NM_000501.4(ELN):c.1999C>T (p.Pro667Ser) rs142316834 0.00031
NM_000501.4(ELN):c.930C>T (p.Ala310=) rs147367888 0.00025
NM_000501.4(ELN):c.861G>A (p.Gly287=) rs368610108 0.00024
NM_000501.4(ELN):c.1373C>A (p.Ala458Glu) rs149117932 0.00021
NM_000501.4(ELN):c.1994-7T>G rs375277198 0.00020
NM_000501.4(ELN):c.1675G>A (p.Val559Ile) rs560081099 0.00015
NM_000501.4(ELN):c.232+3G>A rs377172364 0.00015
NM_000501.4(ELN):c.35G>T (p.Gly12Val) rs367634266 0.00012
NM_000501.4(ELN):c.710G>C (p.Gly237Ala) rs934014841 0.00012
NM_000501.4(ELN):c.460G>A (p.Val154Met) rs145669576 0.00010
NM_000501.4(ELN):c.1358-198G>A rs192461213 0.00008
NM_000501.4(ELN):c.1234G>A (p.Gly412Arg) rs375116795 0.00006
NM_000501.4(ELN):c.659C>T (p.Pro220Leu) rs201012726 0.00006
NM_000501.4(ELN):c.2077C>T (p.Pro693Ser) rs369804770 0.00004
NM_000501.4(ELN):c.2131+14C>T rs782790041 0.00002
NM_000501.4(ELN):c.1281C>T (p.Pro427=) rs376496267 0.00001
NM_000501.4(ELN):c.1622-6C>T rs1280128851 0.00001
NM_000501.4(ELN):c.163+13A>G rs782388951 0.00001
NM_000501.4(ELN):c.1640G>A (p.Gly547Asp) rs150248865 0.00001
NM_000501.4(ELN):c.1415-9A>G rs727503032
NM_000501.4(ELN):c.1819G>C (p.Gly607Arg) rs781963804
NM_000501.4(ELN):c.328G>A (p.Ala110Thr) rs137953195
NM_000501.4(ELN):c.483C>A (p.Pro161=) rs150690195

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