ClinVar Miner

List of variants in gene PRX reported as pathogenic for Autosomal recessive Dejerine-Sottas syndrome

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Total variants: 5
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HGVS dbSNP
NM_181882.2(PRX):c.1102C>T (p.Arg368Ter) rs104894715
NM_181882.2(PRX):c.2857C>T (p.Arg953Ter) rs104894714
PRX, 1-BP DEL, 2289T
PRX, 1-BP DEL, 247C
PRX, 1-BP DEL, 2787C

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