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

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Total variants: 34

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HGVS	dbSNP	gnomAD frequency
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)	rs119103267	0.00029
NM_000166.6(GJB1):c.37G>A (p.Val13Met)	rs104894820	0.00006
NM_030973.4(MED25):c.418C>T (p.Arg140Trp)	rs781140315	0.00006
NM_000166.6(GJB1):c.415G>A (p.Val139Met)	rs104894812	0.00001
NM_001005361.3(DNM2):c.1105C>T (p.Arg369Trp)	rs121909090	0.00001
NM_001605.3(AARS1):c.312G>A (p.Trp104Ter)	rs1398433261	0.00001
NM_016156.6(MTMR2):c.1090C>T (p.Arg364Ter)	rs776757548	0.00001
NM_024577.4(SH3TC2):c.2829T>G (p.Tyr943Ter)	rs80338932	0.00001
NM_000166.6(GJB1):c.281A>G (p.His94Arg)	rs1602349095
NM_000166.6(GJB1):c.394_395del (p.Trp132fs)	rs1555937168
NM_000166.6(GJB1):c.395G>A (p.Trp132Ter)	rs2147946047
NM_000166.6(GJB1):c.468_469del (p.Tyr157fs)	rs1602349420
NM_000166.6(GJB1):c.494T>A (p.Leu165Gln)	rs1602349468
NM_000166.6(GJB1):c.548G>A (p.Arg183His)	rs1555937233
NM_000166.6(GJB1):c.556G>A (p.Glu186Lys)	rs116840821
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln)	rs1060501002
NM_000399.5(EGR2):c.1152C>A (p.His384Gln)	rs2132702519
NM_000530.8(MPZ):c.389A>G (p.Lys130Arg)	rs281865127
NM_000530.8(MPZ):c.401A>T (p.Asp134Val)	rs1571818775
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys)	rs1064795559
NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp)	rs864309503
NM_001303256.3(MORC2):c.79G>A (p.Glu27Lys)	rs1602510200
NM_001605.3(AARS1):c.2192C>G (p.Ser731Trp)	rs150873930
NM_001605.3(AARS1):c.977G>C (p.Arg326Pro)	rs2152160758
NM_006158.5(NEFL):c.506dup (p.Thr170fs)	rs2117255104
NM_006158.5(NEFL):c.54C>G (p.Tyr18Ter)	rs1431523432
NM_014874.4(MFN2):c.746C>T (p.Ser249Phe)	rs794729198
NM_018972.4(GDAP1):c.694+1G>A	rs1183978180
NM_024577.4(SH3TC2):c.2189del (p.Gly730fs)	rs1580900473
NM_024577.4(SH3TC2):c.731+2T>G	rs2127400622
NM_024577.4(SH3TC2):c.974del (p.Asn325fs)	rs1580907885
NM_030962.4(SBF2):c.4877del (p.Pro1626fs)	rs1852575488
NM_030962.4(SBF2):c.5203C>T (p.Gln1735Ter)	rs1590076969
NM_181882.3(PRX):c.1552_1558del (p.Pro518fs)	rs2079443119

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