ClinVar Miner

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

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Gene type:
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Total variants: 20
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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.959+7G>A rs201317128 0.00075
NM_001111077.2(EZR):c.1422A>T (p.Pro474=) rs773034103 0.00071
NM_001111077.2(EZR):c.1293G>C (p.Leu431=) rs141046324 0.00056
NM_001111077.2(EZR):c.1142G>A (p.Arg381Gln) rs142824813 0.00043
NM_001111077.2(EZR):c.752A>G (p.Asn251Ser) rs139467617 0.00042
NM_001111077.2(EZR):c.1062T>C (p.Tyr354=) rs78196406 0.00035
NM_001111077.2(EZR):c.1598C>T (p.Thr533Met) rs146254762 0.00029
NM_001111077.2(EZR):c.1434C>T (p.Tyr478=) rs375043853 0.00020
NM_001111077.2(EZR):c.1585C>T (p.Arg529Trp) rs369354383 0.00008
NM_001111077.2(EZR):c.1177C>T (p.Arg393Cys) rs373495274 0.00004
NM_001111077.2(EZR):c.1426C>G (p.Pro476Ala) rs778674522 0.00003
NM_001111077.2(EZR):c.1481C>T (p.Ala494Val) rs370434486 0.00002
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
NM_001111077.2(EZR):c.928C>T (p.Arg310Trp) rs762270034
NM_001111077.2(EZR):c.94C>G (p.Gln32Glu) rs1554273605

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