List of variants in gene EGR2 studied for Charcot-Marie-Tooth disease type 4E

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000399.5(EGR2):c.627= (p.Pro209=)	rs224083	0.98414
NM_000399.5(EGR2):c.457A>C (p.Thr153Pro)	rs202183386	0.00018
NM_000399.5(EGR2):c.-49A>G
NM_000399.5(EGR2):c.1084C>T (p.Arg362Ter)	rs1554853028
NM_000399.5(EGR2):c.1146T>G (p.Ser382Arg)	rs281865138
NM_000399.5(EGR2):c.1147G>T (p.Asp383Tyr)	rs104894160
NM_000399.5(EGR2):c.770G>A (p.Arg257Gln)	rs780441708
NM_000399.5(EGR2):c.803T>A (p.Ile268Asn)	rs104894158
NM_000399.5(EGR2):c.897AGC[7] (p.Ala308_Ala309dup)	rs746688326

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