ClinVar Miner

List of variants in gene EZR reported as likely benign by Genetic Services Laboratory, University of Chicago

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001111077.2(EZR):c.1419A>C (p.Pro473=) rs776473073 0.00300
NM_001111077.2(EZR):c.1131G>A (p.Glu377=) rs112461897 0.00104
NM_001111077.2(EZR):c.795T>G (p.Pro265=) rs147363431 0.00083
NM_001111077.2(EZR):c.1422A>T (p.Pro474=) rs773034103 0.00071
NM_001111077.2(EZR):c.752A>G (p.Asn251Ser) rs139467617 0.00042
NM_001111077.2(EZR):c.1434C>T (p.Tyr478=) rs375043853 0.00020
NM_001111077.2(EZR):c.699-6C>T rs1347478693 0.00001
NM_001111077.2(EZR):c.1350A>G (p.Lys450=) rs1031711630
NM_001111077.2(EZR):c.366C>G (p.Ala122=) rs35947532

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