ClinVar Miner

List of variants in gene EGR2 reported by Athena Diagnostics Inc

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Gene type:
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000399.5(EGR2):c.1086A>C (p.Arg362=) rs45602133 0.04462
NM_000399.5(EGR2):c.627A>G (p.Pro209=) rs224083 0.01586
NM_000399.5(EGR2):c.174C>T (p.Gly58=) rs143793213 0.00024
NM_000399.5(EGR2):c.192G>C (p.Met64Ile) rs146631014 0.00024
NM_000399.5(EGR2):c.1020C>T (p.Tyr340=) rs554727782 0.00006
NM_000399.5(EGR2):c.826C>A (p.Pro276Thr) rs774442561 0.00004
NM_000399.5(EGR2):c.733G>A (p.Asp245Asn) rs745823802 0.00003
NM_000399.5(EGR2):c.108G>A (p.Val36=) rs746579337 0.00002
NM_000399.5(EGR2):c.670C>A (p.Pro224Thr) rs758869303 0.00001
NM_000399.5(EGR2):c.1141C>T (p.Arg381Cys) rs1589080524
NM_000399.5(EGR2):c.1142G>A (p.Arg381His) rs281865137
NM_000399.5(EGR2):c.1192T>C (p.Phe398Leu)
NM_000399.5(EGR2):c.1225C>T (p.Arg409Trp) rs104894159
NM_000399.5(EGR2):c.1244G>A (p.Arg415His) rs1422314988
NM_000399.5(EGR2):c.206G>A (p.Arg69Lys) rs776869045
NM_000399.5(EGR2):c.307C>T (p.Pro103Ser)
NM_000399.5(EGR2):c.469A>T (p.Thr157Ser)
NM_000399.5(EGR2):c.910GCC[7] (p.Ala309dup) rs753747037

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