ClinVar Miner

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

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Total variants: 8
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HGVS dbSNP
NM_020956.2(PRX):c.*2069C>T rs1210729449
NM_020956.2(PRX):c.*2350T>A rs104894707
NM_020956.2(PRX):c.*3491_*3561del rs1555800610
NM_020956.2(PRX):c.124_125dup (p.Phe43fs) rs1599662837
NM_181882.3(PRX):c.1173del (p.Arg392fs) rs757771239
NM_181882.3(PRX):c.121_122insAAGCTGCGCGAG (p.Gly41_Ile42insGluAlaAlaArg) rs0
NM_181882.3(PRX):c.124_125insGCTGC (p.Ile42fs) rs0
NM_181882.3(PRX):c.2857C>T (p.Arg953Ter) rs104894714

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