ClinVar Miner

List of variants reported as pathogenic for Charcot-Marie-Tooth disease by Institute of Human Genetics,Cologne University

Included ClinVar conditions (130):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_000530.8(MPZ):c.245A>G (p.Tyr82Cys) rs1553259707
NM_002180.2(IGHMBP2):c.638A>G (p.His213Arg) rs137852666
NM_005340.7(HINT1):c.110G>C (p.Arg37Pro) rs149782619
NM_014874.3(MFN2):c.1085C>T (p.Thr362Met) rs387906991
NM_014874.3(MFN2):c.310C>T (p.Arg104Trp) rs119103268
NM_016156.5(MTMR2):c.1164G>A (p.Trp388Ter) rs1555060024
NM_018972.2:c.695_1077del rs1554548327
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) rs104894080
NM_018972.4(GDAP1):c.769C>T (p.Arg257Ter) rs770501034
NM_024577.3(SH3TC2):c.58G>T (p.Glu20Ter)
NM_181882.2(PRX):c.3703G>T (p.Glu1235Ter) rs1385904344

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