List of variants reported as likely pathogenic for Charcot-Marie-Tooth disease by Institute of Human Genetics,Klinikum rechts der Isar

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Total variants: 7

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HGVS	dbSNP
NM_002972.4(SBF1):c.3826+1G>A	rs1009209509
NM_014874.3(MFN2):c.1252C>T (p.Arg418Ter)	rs1057517987
NM_014874.3(MFN2):c.1839dup (p.Thr614fs)	rs1553145402
NM_021625.4(TRPV4):c.935C>T (p.Ala312Val)	rs751139506
NM_022489.4(INF2):c.226CTG[2] (p.Leu78del)	rs0
NM_138773.4(SLC25A46):c.736A>T (p.Arg246Ter)	rs1554093168
NM_152296.5(ATP1A3):c.2543G>C (p.Gly848Ala)	rs1599705281

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