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

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys)	rs59885338	0.00002
NM_021625.5(TRPV4):c.943C>T (p.Arg315Trp)	rs267607143	0.00001
NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu)	rs863225022
NM_014874.4(MFN2):c.2256C>A (p.Tyr752Ter)	rs863224968
NM_014874.4(MFN2):c.494A>G (p.His165Arg)	rs863224970
NM_014874.4(MFN2):c.707C>T (p.Thr236Met)	rs773159585
NM_021625.5(TRPV4):c.806G>A (p.Arg269His)	rs267607144

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