ClinVar Miner

List of variants in gene PDXK reported as pathogenic for Charcot-Marie-Tooth disease

Included ClinVar conditions (137):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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NM_003681.5(PDXK):c.659G>A (p.Arg220Gln) rs759333796
NM_003681.5(PDXK):c.682G>A (p.Ala228Thr) rs757480516

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