ClinVar Miner

List of variants reported as pathogenic for Charcot-Marie-Tooth disease type 4 by Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine

Included ClinVar conditions (25):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NC_000008.10:g.134265065_134271319dup
NM_024577.3(SH3TC2):c.820_821insT (p.Lys274fs) rs879253859

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