ClinVar Miner

List of variants reported as pathogenic for Charcot-Marie-Tooth disease type 2 by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (60):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_000530.8(MPZ):c.371C>T (p.Thr124Met) rs121913595
NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser) rs121913603
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys) rs587780564
NM_002180.2(IGHMBP2):c.1082T>C (p.Leu361Pro) rs201060167
NM_014874.3(MFN2):c.2119C>T (p.Arg707Trp) rs119103267
NM_014874.3(MFN2):c.2219G>C (p.Trp740Ser) rs28940292
NM_014874.3(MFN2):c.310C>T (p.Arg104Trp) rs119103268
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter) rs104894077
NM_021625.4(TRPV4):c.806G>A (p.Arg269His) rs267607144
NM_025137.4(SPG11):c.1085G>A (p.Trp362Ter) rs140385286
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) rs386134243
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) rs11575937

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