List of variants reported as likely 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.3653-1G>A	rs145183196	0.00001
NM_030962.4(SBF2):c.161G>A (p.Trp54Ter)	rs1166873755
NM_030962.4(SBF2):c.1902_1905dup (p.Pro636fs)
NM_030962.4(SBF2):c.2215G>A (p.Glu739Lys)	rs2134001289
NM_030962.4(SBF2):c.2329del (p.Trp777fs)
NM_030962.4(SBF2):c.4331_4332del (p.Lys1444fs)	rs1853955279
NM_030962.4(SBF2):c.4444-1G>C
NM_030962.4(SBF2):c.815dup (p.Ile273fs)

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