ClinVar Miner

List of variants reported as pathogenic for Charcot-Marie-Tooth disease, axonal type 2X by OMIM

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Total variants: 5
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NM_025137.4(SPG11):c.118C>T (p.Gln40Ter) rs267607084
NM_025137.4(SPG11):c.529_533del (p.Ile177fs) rs312262716
NM_025137.4(SPG11):c.592C>T (p.Gln198Ter) rs863225440
NM_025137.4(SPG11):c.6100C>T (p.Arg2034Ter) rs118203963
NM_025137.4(SPG11):c.6632dup (p.Pro2212fs) rs863225439

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