ClinVar Miner

List of variants in gene EGR2 studied for Charcot-Marie-Tooth disease type 1

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 35
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HGVS dbSNP
NM_000399.5(EGR2):c.*145T>A rs886047091
NM_000399.5(EGR2):c.*150A>G
NM_000399.5(EGR2):c.*230G>T
NM_000399.5(EGR2):c.*287T>A rs61865883
NM_000399.5(EGR2):c.*288G>A rs117395928
NM_000399.5(EGR2):c.*429G>A rs114237833
NM_000399.5(EGR2):c.*456G>A rs886047090
NM_000399.5(EGR2):c.*618T>C
NM_000399.5(EGR2):c.*646C>T rs555024997
NM_000399.5(EGR2):c.*655G>A rs886047089
NM_000399.5(EGR2):c.*79C>A
NM_000399.5(EGR2):c.*874A>G rs61865882
NM_000399.5(EGR2):c.*919G>C rs886047087
NM_000399.5(EGR2):c.-1A>G rs553201646
NM_000399.5(EGR2):c.-299G>A
NM_000399.5(EGR2):c.-64A>C
NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp) rs104894161
NM_000399.5(EGR2):c.1076G>A (p.Arg359Gln) rs281865136
NM_000399.5(EGR2):c.1084C>T (p.Arg362Ter) rs1554853028
NM_000399.5(EGR2):c.1086A>C (p.Arg362=) rs45602133
NM_000399.5(EGR2):c.1142G>A (p.Arg381His) rs281865137
NM_000399.5(EGR2):c.1160C>A (p.Thr387Asn) rs281865139
NM_000399.5(EGR2):c.1225C>T (p.Arg409Trp) rs104894159
NM_000399.5(EGR2):c.1352G>T (p.Gly451Val) rs138967272
NM_000399.5(EGR2):c.1360T>G (p.Cys454Gly) rs886047092
NM_000399.5(EGR2):c.169+10G>T rs114201658
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.246C>G (p.Val82=) rs144217451
NM_000399.5(EGR2):c.380C>T (p.Pro127Leu) rs932803146
NM_000399.5(EGR2):c.457A>C (p.Thr153Pro) rs202183386
NM_000399.5(EGR2):c.541C>T (p.Leu181Phe) rs886047095
NM_000399.5(EGR2):c.644C>T (p.Thr215Met) rs139147487
NM_000399.5(EGR2):c.918C>T (p.Ala306=) rs886047094
NM_000399.5(EGR2):c.924C>T (p.Ala308=) rs886047093

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