List of variants reported as likely pathogenic for Charcot-Marie-Tooth disease by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_002437.5(MPV17):c.376-9T>G	rs368900406	0.00002
NM_000166.6(GJB1):c.467T>A (p.Leu156His)	rs104894818
NM_000166.6(GJB1):c.514C>G (p.Pro172Ala)	rs104894811
NM_000166.6(GJB1):c.643C>T (p.Arg215Trp)	rs879254099
NM_000530.8(MPZ):c.306del (p.Asp104fs)	rs281865125
NM_001005373.4(LRSAM1):c.2120C>T (p.Pro707Leu)	rs797044913
NM_002047.4(GARS1):c.647A>G (p.His216Arg)	rs768987322
NM_014874.4(MFN2):c.1160+1G>A	rs1553144086
NM_014874.4(MFN2):c.695C>G (p.Thr232Ser)	rs1569842764
NM_014874.4(MFN2):c.827A>G (p.Gln276Arg)	rs119103264
NM_021625.5(TRPV4):c.710G>A (p.Arg237Gln)	rs1289139464
NM_030962.4(SBF2):c.161G>A (p.Trp54Ter)	rs1166873755
NM_030962.4(SBF2):c.2329del (p.Trp777fs)

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