List of variants reported as pathogenic for Charcot-Marie-Tooth disease recessive intermediate C by OMIM

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_020631.6(PLEKHG5):c.1988C>T (p.Thr663Met)	rs397515456	0.00002
NM_020631.6(PLEKHG5):c.2458G>C (p.Gly820Arg)	rs202191898
NM_020631.6(PLEKHG5):c.38del (p.Pro13fs)	rs397515454
NM_020631.6(PLEKHG5):c.912_918dup (p.Glu307Ter)	rs397515455

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