ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 1D

Included ClinVar conditions (1):
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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_000399.5(EGR2):c.627= (p.Pro209=) rs224083 0.98414
NM_000399.5(EGR2):c.*287T>A rs61865883 0.05337
NM_000399.5(EGR2):c.*874A>G rs61865882 0.05335
NM_000399.5(EGR2):c.1086A>C (p.Arg362=) rs45602133 0.04462
NM_000399.5(EGR2):c.*429G>A rs114237833 0.00979
NM_000399.5(EGR2):c.169+10G>T rs114201658 0.00953
NM_000399.5(EGR2):c.*288G>A rs117395928 0.00758
NM_000399.5(EGR2):c.246C>G (p.Val82=) rs144217451 0.00078
NM_000399.5(EGR2):c.*646C>T rs555024997 0.00047
NM_000399.5(EGR2):c.644C>T (p.Thr215Met) rs139147487 0.00039
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.457A>C (p.Thr153Pro) rs202183386 0.00018
NM_000399.5(EGR2):c.*618T>C rs748486219 0.00009
NM_000399.5(EGR2):c.*919G>C rs886047087 0.00003
NM_000399.5(EGR2):c.-1A>G rs553201646 0.00002
NM_000399.5(EGR2):c.918C>T (p.Ala306=) rs886047094 0.00002
NM_000399.5(EGR2):c.*655G>A rs886047089 0.00001
NM_000399.5(EGR2):c.*79C>A rs1310299341 0.00001
NM_000399.5(EGR2):c.541C>T (p.Leu181Phe) rs886047095 0.00001
NM_000399.5(EGR2):c.924C>T (p.Ala308=) rs886047093 0.00001
NM_000399.5(EGR2):c.*145T>A rs886047091
NM_000399.5(EGR2):c.*150A>G rs1055794746
NM_000399.5(EGR2):c.*230G>T rs1842147977
NM_000399.5(EGR2):c.*456G>A rs886047090
NM_000399.5(EGR2):c.-299G>A rs1842269401
NM_000399.5(EGR2):c.-64A>C rs1842261380
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.1084C>T (p.Arg362Ter) rs1554853028
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.1146T>G (p.Ser382Arg) rs281865138
NM_000399.5(EGR2):c.1147G>C (p.Asp383His) rs104894160
NM_000399.5(EGR2):c.1147G>T (p.Asp383Tyr) rs104894160
NM_000399.5(EGR2):c.1160C>A (p.Thr387Asn) rs281865139
NM_000399.5(EGR2):c.1190C>A (p.Pro397His)
NM_000399.5(EGR2):c.1225C>T (p.Arg409Trp) rs104894159
NM_000399.5(EGR2):c.1235A>G (p.Glu412Gly) rs749558026
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.380C>T (p.Pro127Leu) rs932803146
NM_000399.5(EGR2):c.524C>A (p.Ser175Tyr)
NM_000399.5(EGR2):c.803T>A (p.Ile268Asn) rs104894158

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