List of variants reported as pathogenic for Charcot-Marie-Tooth disease type 4B2

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_030962.4(SBF2):c.1088_1296+646del
NM_030962.4(SBF2):c.1459C>T (p.Arg487Ter)	rs120074139
NM_030962.4(SBF2):c.2055T>G (p.Tyr685Ter)	rs2134006623
NM_030962.4(SBF2):c.2875C>T (p.Gln959Ter)	rs120074137
NM_030962.4(SBF2):c.3586C>T (p.Arg1196Ter)	rs120074138
NM_030962.4(SBF2):c.4443+1G>C	rs1564872328
NM_030962.4(SBF2):c.4877del (p.Pro1626fs)	rs1852575488
NM_030962.4(SBF2):c.5203C>T (p.Gln1735Ter)	rs1590076969

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