ClinVar Miner

List of variants reported as pathogenic for Charcot-Marie-Tooth disease type 4B1 by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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Total variants: 5
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MTMR2, IVS13, G-A, +1
NM_016156.5(MTMR2):c.1276C>T (p.Gln426Ter) rs121434402
NM_016156.5(MTMR2):c.1444C>T (p.Gln482Ter) rs121434404
NM_016156.5(MTMR2):c.826G>T (p.Glu276Ter) rs121434403

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