List of variants reported as pathogenic for Charcot-Marie-Tooth disease by Mendelics

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Total variants: 11

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HGVS	dbSNP
NM_000166.6(GJB1):c.281A>G (p.His94Arg)	rs1602349095
NM_000166.6(GJB1):c.392_393TG[1] (p.Trp132fs)	rs1555937168
NM_000166.6(GJB1):c.466_467CT[1] (p.Tyr157fs)	rs1602349420
NM_000530.8(MPZ):c.389A>G (p.Lys130Arg)	rs281865127
NM_001005360.2(DNM2):c.1105C>T (p.Arg369Trp)	rs121909090
NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp)	rs864309503
NM_006070.6(TFG):c.854C>T (p.Pro285Leu)	rs207482230
NM_014874.4(MFN2):c.746C>T (p.Ser249Phe)	rs794729198
NM_024577.4(SH3TC2):c.2189del (p.Gly730fs)	rs1580900473
NM_024577.4(SH3TC2):c.974del (p.Asn325fs)	rs1580907885
NM_030962.3(SBF2):c.5203C>T (p.Gln1735Ter)	rs1590076969

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