ClinVar Miner

List of variants in gene PRX reported as pathogenic for Charcot-Marie-Tooth disease type 4

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Total variants: 13
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NM_020956.2(PRX):c.*1307C>T rs104894715
NM_020956.2(PRX):c.*1595C>T rs574861276
NM_020956.2(PRX):c.*2350T>A rs104894707
NM_020956.2(PRX):c.*3058dup rs1568704829
NM_020956.2(PRX):c.*3219_*3220insT rs1301129751
NM_020956.2(PRX):c.*3413C>T rs104894708
NM_020956.2(PRX):c.165_177dup (p.Gln60fs)
NM_020956.2(PRX):c.231C>G (p.Tyr77Ter) rs752192677
NM_020956.2(PRX):c.353del (p.Lys118fs) rs1568710514
NM_181882.3(PRX):c.2857C>T (p.Arg953Ter) rs104894714
NM_181882.3(PRX):c.627del (p.Ala210fs)

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