List of variants reported as uncertain significance for Charcot-Marie-Tooth disease type 4E

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Show significances as they were submitted (without aggregation into standard terms)

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000530.8(MPZ):c.133C>T (p.Arg45Trp)	rs200151353	0.00051
NM_000399.5(EGR2):c.457A>C (p.Thr153Pro)	rs202183386	0.00018
NM_003632.3(CNTNAP1):c.1228G>A (p.Val410Met)	rs775036363	0.00001
NM_000399.5(EGR2):c.-49A>G
NM_000399.5(EGR2):c.1084C>T (p.Arg362Ter)	rs1554853028
NM_000399.5(EGR2):c.770G>A (p.Arg257Gln)	rs780441708
NM_000399.5(EGR2):c.897AGC[7] (p.Ala308_Ala309dup)	rs746688326
NM_000399.5(EGR2):c.910GCC[8] (p.Ala308_Ala309dup)	rs753747037

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