ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 2 by Baylor Genetics

Included ClinVar conditions (60):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_001039550.2(DNAJB2):c.343G>T (p.Glu115Ter) rs797045039
NM_002047.4(GARS1):c.1904C>T (p.Ser635Leu) rs201358272
NM_014874.3(MFN2):c.310C>T (p.Arg104Trp) rs119103268
NM_025137.4(SPG11):c.6100C>T (p.Arg2034Ter) rs118203963

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