ClinVar Miner

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

Included ClinVar conditions (172):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_014845.6(FIG4):c.1141C>T (p.Arg381Ter) rs377357931 0.00009
NM_000166.6(GJB1):c.319C>T (p.Arg107Trp) rs863224973 0.00005
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter) rs80338934 0.00003
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys) rs59885338 0.00003
NM_024577.4(SH3TC2):c.1586G>A (p.Arg529His) rs80338923 0.00002
NM_000530.8(MPZ):c.292C>T (p.Arg98Cys) rs121913590 0.00001
NM_014874.4(MFN2):c.707C>T (p.Thr236Met) rs773159585 0.00001
NM_018972.4(GDAP1):c.373C>T (p.Arg125Ter) rs745663149 0.00001
NM_021625.5(TRPV4):c.943C>T (p.Arg315Trp) rs267607143 0.00001
NM_000166.6(GJB1):c.224G>A (p.Arg75Gln) rs863224972
NM_000304.4(PMP22):c.281dup (p.Arg95fs) rs80338763
NM_000304.4(PMP22):c.434del (p.Leu145fs) rs863225029
NM_000530.8(MPZ):c.270C>A (p.Asp90Glu) rs121913584
NM_000530.8(MPZ):c.410G>A (p.Gly137Asp) rs863225025
NM_000530.8(MPZ):c.646-10_650del rs863225026
NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu) rs863225022
NM_014874.4(MFN2):c.1090C>T (p.Arg364Trp) rs119103265
NM_014874.4(MFN2):c.2256C>A (p.Tyr752Ter) rs863224968
NM_014874.4(MFN2):c.494A>G (p.His165Arg) rs863224970
NM_021625.5(TRPV4):c.806G>A (p.Arg269His) rs267607144

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