List of variants reported for Charcot-Marie-Tooth disease recessive intermediate C by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_020631.6(PLEKHG5):c.2609C>T (p.Pro870Leu)	rs772693344	0.00002
NM_020631.6(PLEKHG5):c.2839G>A (p.Gly947Arg)	rs555305602	0.00002
NM_020631.6(PLEKHG5):c.59G>A (p.Arg20Gln)	rs1259066437	0.00001
NM_020631.6(PLEKHG5):c.1132-2A>C	rs1557742277
NM_020631.6(PLEKHG5):c.352G>A (p.Val118Met)	rs2523210890

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