ClinVar Miner

List of variants in gene ELN reported as uncertain significance for autosomal anomaly

Included ClinVar conditions (123):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
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.1373C>A (p.Ala458Glu) rs149117932 0.00021
NM_000501.4(ELN):c.1675G>A (p.Val559Ile) rs560081099 0.00015
NM_000501.4(ELN):c.35G>T (p.Gly12Val) rs367634266 0.00012
NM_000501.4(ELN):c.202G>A (p.Gly68Arg) rs372566075 0.00011
NM_000501.4(ELN):c.403G>A (p.Gly135Arg) rs373650953 0.00007
NM_000501.4(ELN):c.1543G>A (p.Val515Met) rs376258672 0.00006
NM_000501.4(ELN):c.1943G>A (p.Gly648Glu) rs140085632 0.00003
NM_000501.4(ELN):c.1138G>A (p.Ala380Thr) rs973649598 0.00001
NM_000501.4(ELN):c.1150G>A (p.Gly384Arg) rs782359367 0.00001
NM_000501.4(ELN):c.134-16T>C rs782791376 0.00001
NM_000501.4(ELN):c.893T>C (p.Val298Ala) rs782205353 0.00001
NM_000501.3(ELN):c.-70G>C rs537200597
NM_000501.4(ELN):c.1178_1201del (p.Gly393_Gly400del) rs781838239
NM_000501.4(ELN):c.1591_1592delinsTT (p.Ala531Phe) rs863223529

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