ClinVar Miner

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

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Gene type:		Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP
NM_020956.2(PRX):c.*1378del
NM_020956.2(PRX):c.*2069C>T
NM_020956.2(PRX):c.124_125dup (p.Phe43fs)

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