List of variants in gene EGR2 reported as uncertain significance for Charcot-Marie-Tooth disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000399.5(EGR2):c.733G>A (p.Asp245Asn)	rs745823802	0.00003
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.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)	rs1842165681
NM_000399.5(EGR2):c.1200_1201del (p.Cys400_Asp401delinsTer)	rs1589080408
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.897AGC[6] (p.Ala309dup)	rs746688326
NM_000399.5(EGR2):c.938A>G (p.His313Arg)	rs772972643
NM_000399.5(EGR2):c.941A>C (p.His314Pro)	rs768808272

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