List of variants reported as uncertain significance for Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_020631.6(PLEKHG5):c.2759C>T (p.Pro920Leu)	rs1436307319	0.00004
NM_020631.6(PLEKHG5):c.823G>A (p.Gly275Ser)	rs201267486	0.00004
NM_020631.6(PLEKHG5):c.2932G>C (p.Ala978Pro)	rs368905339	0.00002
NM_020631.6(PLEKHG5):c.527G>C (p.Gly176Ala)	rs531190324	0.00002
NM_020631.6(PLEKHG5):c.-71A>C
NM_020631.6(PLEKHG5):c.-88+6297G>C
NM_020631.6(PLEKHG5):c.2227G>T (p.Gly743Cys)
NM_020631.6(PLEKHG5):c.2458G>C (p.Gly820Arg)	rs202191898

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