ClinVar Miner

List of variants in gene EGR2 reported as likely benign for Charcot-Marie-Tooth disease

Included ClinVar conditions (138):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP
NM_000399.5(EGR2):c.-1A>G rs553201646
NM_000399.5(EGR2):c.1242G>A (p.Lys414=) rs554456422
NM_000399.5(EGR2):c.1352G>A (p.Gly451Asp) rs138967272
NM_000399.5(EGR2):c.1352G>T (p.Gly451Val) rs138967272
NM_000399.5(EGR2):c.1395G>A (p.Pro465=) rs779811073
NM_000399.5(EGR2):c.174C>T (p.Gly58=) rs143793213
NM_000399.5(EGR2):c.192G>C (p.Met64Ile) rs146631014
NM_000399.5(EGR2):c.210G>A (p.Ser70=)
NM_000399.5(EGR2):c.222A>C (p.Pro74=)
NM_000399.5(EGR2):c.222A>G (p.Pro74=) rs201068734
NM_000399.5(EGR2):c.246C>G (p.Val82=) rs144217451
NM_000399.5(EGR2):c.457A>C (p.Thr153Pro) rs202183386
NM_000399.5(EGR2):c.644C>T (p.Thr215Met) rs139147487
NM_000399.5(EGR2):c.645G>A (p.Thr215=)
NM_000399.5(EGR2):c.774G>A (p.Val258=)
NM_000399.5(EGR2):c.789T>C (p.Thr263=)
NM_000399.5(EGR2):c.816C>A (p.Thr272=) rs863224359
NM_000399.5(EGR2):c.843C>T (p.Thr281=)

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