ClinVar Miner

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

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Total variants: 30
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HGVS dbSNP
NM_000399.5(EGR2):c.-1A>G rs553201646
NM_000399.5(EGR2):c.1057C>G (p.Arg353Gly) rs1589080632
NM_000399.5(EGR2):c.1064A>T (p.Asp355Val) rs1589080611
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.1086A>C (p.Arg362=) rs45602133
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.1147G>C (p.Asp383His) rs104894160
NM_000399.5(EGR2):c.1160C>A (p.Thr387Asn) rs281865139
NM_000399.5(EGR2):c.1183G>C (p.Glu395Gln) rs0
NM_000399.5(EGR2):c.1198_1199TG[1] (p.Cys400_Asp401delinsTer) rs1589080408
NM_000399.5(EGR2):c.1235A>G (p.Glu412Gly) rs749558026
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.210G>A (p.Ser70=) rs0
NM_000399.5(EGR2):c.222A>C (p.Pro74=) rs0
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.645G>A (p.Thr215=) rs0
NM_000399.5(EGR2):c.733G>A (p.Asp245Asn) rs0
NM_000399.5(EGR2):c.774G>A (p.Val258=) rs0
NM_000399.5(EGR2):c.789T>C (p.Thr263=) rs0
NM_000399.5(EGR2):c.816C>A (p.Thr272=) rs863224359
NM_000399.5(EGR2):c.843C>T (p.Thr281=) rs0
NM_000399.5(EGR2):c.897_899AGC[6] (p.Ala309dup) rs746688326
NM_000399.5(EGR2):c.938A>G (p.His313Arg) rs0
NM_000399.5(EGR2):c.941A>C (p.His314Pro) rs768808272

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