List of variants reported as pathogenic for Charcot-Marie-Tooth disease type 2 by Athena Diagnostics Inc

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Total variants: 12

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HGVS	dbSNP
NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu)	rs863225022
NM_001540.5(HSPB1):c.523C>T (p.Gln175Ter)	rs863225023
NM_014874.3(MFN2):c.1090C>T (p.Arg364Trp)	rs119103265
NM_014874.3(MFN2):c.2256C>A (p.Tyr752Ter)	rs863224968
NM_014874.3(MFN2):c.280C>T (p.Arg94Trp)	rs119103263
NM_014874.3(MFN2):c.281G>A (p.Arg94Gln)	rs28940291
NM_014874.3(MFN2):c.494A>G (p.His165Arg)	rs863224970
NM_014874.3(MFN2):c.707C>T (p.Thr236Met)	rs773159585
NM_021625.4(TRPV4):c.694C>T (p.Arg232Cys)	rs387906904
NM_021625.4(TRPV4):c.806G>A (p.Arg269His)	rs267607144
NM_021625.4(TRPV4):c.943C>T (p.Arg315Trp)	rs267607143
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys)	rs59885338

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