List of variants reported as pathogenic for Charcot-Marie-Tooth disease type 2 by Kariminejad - Najmabadi Pathology & Genetics Center

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_014874.4(MFN2):c.1085C>T (p.Thr362Met)	rs387906991	0.00003
NM_018972.4(GDAP1):c.373C>T (p.Arg125Ter)	rs745663149	0.00001
NM_000530.8(MPZ):c.245A>G (p.Tyr82Cys)	rs1553259707
NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp)	rs864309503
NM_001540.5(HSPB1):c.250G>A (p.Gly84Arg)	rs770272088
NM_001540.5(HSPB1):c.407G>A (p.Arg136Gln)	rs863225022
NM_002180.3(IGHMBP2):c.449+1G>T	rs797044802
NM_007289.4(MME):c.1066A>T (p.Lys356Ter)	rs2473073611
NM_014874.4(MFN2):c.281G>A (p.Arg94Gln)	rs28940291
NM_018972.4(GDAP1):c.112C>T (p.Gln38Ter)	rs761035569
NM_025137.4(SPG11):c.5989_5992del (p.Leu1997fs)	rs312262776

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